RESUMEN
BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner. OBJECTIVES: To describe the genotypic and clinical spectrum of biallelic KITLG-variants. METHODS: We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports. RESULTS: We describe the first case series with biallelic KITLG variants; we expand the known hypomelanosis spectrum to include a 'sock-and-glove-like', symmetric distribution, progressive repigmentation and generalized hypomelanosis. We speculate that KITLG biallelic loss-of-function variants cause generalized hypomelanosis, whilst variants with residual function lead to a variable auditory-pigmentary disorder mostly reminiscent of Waardenburg syndrome type 2 or piebaldism. CONCLUSIONS: We provide consolidating evidence that biallelic KITLG variants cause a distinct auditory-pigmentary disorder. We evidence a significant clinical variability, similar to the one previously observed in KIT-related piebaldism.
Asunto(s)
Pérdida Auditiva Sensorineural , Hiperpigmentación , Hipopigmentación , Piebaldismo , Pérdida Auditiva Sensorineural/genética , Humanos , Hipopigmentación/genética , Factor de Células Madre , Síndrome de WaardenburgRESUMEN
OBJECTIVE: We aimed in this study to investigate views and suggestions of health field editors about the publication process and ethical problems. MATERIALS AND METHODS: The study involved 42 journal editors who accepted to participate in the study. The data were collected through 70-item "Editor Views Questionnaire" which was developed by the researchers in line with the related literature. RESULTS: The editors who participated in the study were asked about their views about the most common problems they encountered related to publication ethics; the top three problems indicated by the editors included unjustified authorship (40.5%), duplicate publication (33.3%), and falsification (26.2%). An analysis of the problems encountered in the initial evaluation stage revealed the top three issues as articles that did not follow the writing rules of the journal (33.3%), unqualified articles (30.1%), and negligence of the author(s) (14.3%). Views in relation to the problems about the referee evaluation stage included evaluations that were not completed within the time given (28.6%), insufficient importance attached to the evaluation (23.9%), and inability to find sufficient number of referees (16.7%). CONCLUSION: some editors were found to encounter violation of publication ethics, to experience problems in the revision stage, and not to feel fully independent in their contribution to article publication and thus the improvement of the journal quality. Identification of journal editors' views and problems is an important step for the solution to these problems; it could thus contribute to improving the quality of publication process and journal quality.
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Políticas Editoriales , Revisión de la Investigación por Pares/ética , Publicaciones Periódicas como Asunto/normas , Publicaciones/ética , Edición/ética , Autoria , Humanos , Revisión por Pares/ética , Revisión de la Investigación por Pares/métodos , Publicaciones/normas , Mala Conducta Científica , Encuestas y CuestionariosRESUMEN
Intralymphatic histiocytosis (IH) is a rare condition that presents with livedoid, erythematous to violaceous patches and plaques near affected joints most commonly in patients with rheumatoid arthritis and in at least 8 reports overlying metal implants. We report the case of a 58 year-old Caucasian woman who developed an indurated violaceous reticulated plaque overlying her right hip after placement of a metal hip implant 6 years prior for treatment of osteoarthritis. Histopathology revealed a proliferation of D2-40-positive dilated lymphatic spaces in the dermis and intralymphatic proliferation of CD68-positive histiocytes. Lab results included negative serology for rheumatoid factor and negative leukocyte function testing for metal allergies. The patient was treated with pentoxifylline, which resulted in decreased induration and erythema of the lesion with almost complete resolution of the plaque. This case highlights the diagnostic and therapeutic challenges of cutaneous reactive angiomatoses, which are rare skin conditions that can present with similar clinical and histologic findings and can be differentiated on the basis of immunostains that highlight vascular and lymphatic endothelium and histiocytes. Pentoxifylline may be considered as a therapeutic option because of its anti-inflammatory and antiplatelet activity.
RESUMEN
OBJECTIVES: Cardiac surgical operations performed by using extracorporeal circulation (ECC) lead to a systemic inflammatory response (SIR). Sometimes SIR may turn into a severe state, the systemic inflammatory response syndrome (SIRS) that usually has a poor outcome with no specific clinical tools described for its prediction. Red cell distribution width (RDW) is a routine hematological parameter. It has been proposed as a marker of morbidity and mortality in various clinical conditions. We aimed to investigate the relationship between high RDW and SIRS which is triggered by ECC. METHODS: Eleven hundred consecutive patients who underwent elective heart surgery with the use of ECC were retrospectively analyzed. A total of 19 patients fulfilled the described SIRS criteria and 20 consecutive patients were selected as the control group. RDW and other laboratory parameters, preoperative clinical status, operative data and postoperative data were compared between the SIRS and the control groups. RESULTS: Baseline characteristics of the patient groups were similar. Significant mortality was found in the SIRS group; 18 (94.73%) patients and 2 (10%) patients in the control group (p < 0.002). RDW was found to be significantly higher in the SIRS group vs the control group (15.02 ± 2.03 vs 13.01 ± 1.93, respectively, p < 0.003). Multiple logistic regression analyses showed an association between high RDW levels and SIRS development (OR for RDW levels exceeding 13.5%; 95% confidence limits of 1.0-1.3; p < 0.04). Total operation time and the need for inotropic support were also found to be significant against the SIRS group (p = 0.049). CONCLUSION: Increased RDW was significantly associated with increased risk of SIRS after ECC. The results of this study suggest that paying attention to RDW might provide valuable clinical information for predicting SIRS development among patients who are candidates for open heart surgery, without incurring additional costs.
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Índices de Eritrocitos , Eritrocitos/metabolismo , Circulación Extracorporea/efectos adversos , Síndrome de Respuesta Inflamatoria Sistémica/sangre , Adulto , Anciano , Procedimientos Quirúrgicos Cardíacos , Procedimientos Quirúrgicos Electivos , Eritrocitos/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Síndrome de Respuesta Inflamatoria Sistémica/mortalidadRESUMEN
Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.
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Hibridación Fluorescente in Situ/métodos , Discapacidad Intelectual/genética , Monosomía/genética , Deleción Cromosómica , Trastornos de los Cromosomas , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 10 , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Femenino , Reordenamiento Génico/genética , Humanos , Discapacidad Intelectual/sangre , Cariotipificación/métodos , Masculino , Telómero/genética , TurquíaRESUMEN
Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations. Allogeneic BMT in the early period is an important modality of treatment for GD. We carried out an alloBMT from an HLA-identical sibling donor on a 4-year-old girl who presented in accelerated phase with neurological manifestations including convulsions, strabismus, severe dysarthria, ataxia and clonus. She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent alloBMT after receiving a conditioning regimen including ATG (rabbit, 10 mg/kg x 5 days), Bu/Cy. 8 x 108/kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BMT period was uneventful. Currently, she is at 18 months post BMT with sustained engraftment and with a normal neurological examination except for minimal clonus. Long-term follow-up will determine the prognosis regarding the neurological findings.
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Trasplante de Médula Ósea , Hipopigmentación/terapia , Síndromes de Inmunodeficiencia/terapia , Enfermedades del Sistema Nervioso/terapia , Preescolar , Femenino , Humanos , Hipopigmentación/fisiopatología , Síndromes de Inmunodeficiencia/fisiopatología , Enfermedades del Sistema Nervioso/fisiopatología , Trasplante HomólogoRESUMEN
This study was performed to evaluate the aggregation changes in the whole blood samples of children with epilepsy receiving valproic acid. A total of 25 patients and 15 healthy volunteer adults were included in the study. Platelet aggregation study was performed in whole blood by impedance aggregometry. Platelet counts, the bleeding times, and clotting times of the patients were within normal limits. The aggregation time and maximum aggregation values revealed no significant difference except for those with 2 mu g/ml collagen (p < 0.01) between the two groups. Serum valproic acid levels of the children did not correlate with the maximum aggregation values induced by different concentrations of aggregating agents except for 20 mu M ADP (r = -0.430, p < 0.05). We concluded that the use of valproic acid does not result in thrombocytopenia and platelet dysfunction within therapeutic limits and the drug is reliable in the management of epilepsy.
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Anticonvulsivantes/efectos adversos , Epilepsia/tratamiento farmacológico , Agregación Plaquetaria/efectos de los fármacos , Ácido Valproico/efectos adversos , Adolescente , Anticonvulsivantes/uso terapéutico , Pruebas de Coagulación Sanguínea , Niño , Preescolar , Epilepsia/sangre , Femenino , Humanos , Masculino , Ácido Valproico/uso terapéuticoRESUMEN
OBJECTIVE: To assess the effects of dietary long chain polyunsaturated fatty acid (LCPUFA) supplementation on auditory brainstem maturation of healthy term newborns during the first 16 weeks of life by measuring brainstem auditory evoked potentials (BAEPs). DESIGN: Throughout the 16 week study period, infants in the formula A group (n = 28) were assigned to be fed exclusively with the same formula supplemented with DHA, and infants in the formula B group (n = 26) were assigned to receive only a DHA unsupplemented but otherwise similar formula. During the study period, the first 26 consecutive infants to be fed exclusively on their mother's milk for at least the first 16 weeks of life were chosen as the control group. BAEP measurements were performed twice: at the first and 16th week of age. RESULTS: There were no significant differences among the study and control groups in the BAEP measurements performed at the study entry. At 16 weeks of age, all absolute wave and interpeak latencies in the study and control groups had significantly decreased. The decreases were significantly greater in the formula A and control groups than in the formula B group. CONCLUSIONS: Infants fed on human milk or a formula supplemented with LCPUFAs during the first 16 weeks of life show more rapid BAEP maturation than infants fed on a standard formula. Although the clinical importance and long term effects of these findings remain to be determined, routine supplementation of formulas with LCPUFAs should be considered.
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Tronco Encefálico/crecimiento & desarrollo , Desarrollo Infantil/fisiología , Fenómenos Fisiológicos Nutricionales del Lactante , Recién Nacido/crecimiento & desarrollo , Alimentación con Biberón , Lactancia Materna , Estudios de Casos y Controles , Grasas Insaturadas en la Dieta/administración & dosificación , Método Doble Ciego , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Femenino , Humanos , LactanteRESUMEN
The effects of the valproic acid and carbamazepine monotherapies on bone mineral density were evaluated. Bone mineral density was measured in 53 children with primary epilepsy taking either valproic acid (n = 25) or carbamazepine (n = 28) for longer than 1 year and in a healthy control group (n = 26) by the dual-energy x-ray absorptiometry method at L2-L4 levels of lumbar vertebrae. The mean serum levels of valproic acid and carbamazepine were 66 +/- 2.2 microg/mL and 7.0 +/- 9.3 microg/mL, respectively, and the mean duration of treatment for each drug was 2.4 +/- 0.2 years and 2.6 +/- 0.5 years, respectively. Calcium intakes in diet were similar in both the control and study groups. The serum levels of calcium and phosphorus in all groups were normal. Bone mineral density values of both valproic acid and carbamazepine groups were not statistically different from that of the control group (P > 0.05).
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Anticonvulsivantes/uso terapéutico , Densidad Ósea/efectos de los fármacos , Carbamazepina/uso terapéutico , Ácido Valproico/uso terapéutico , Absorciometría de Fotón , Fosfatasa Alcalina/sangre , Calcio/sangre , Niño , Epilepsia/tratamiento farmacológico , Epilepsia/metabolismo , Femenino , Humanos , Masculino , Fósforo/sangre , Valores de ReferenciaRESUMEN
Slight-to-moderate impairments may be observed in mental and motor developments of infants with iron- deficiency anemia. Brainstem auditory-evoked potentials provide a noninvasive means of examining the auditory aspect of the central nervous system functions. In this study the effect of iron-deficiency anemia on auditory functions was investigated by using brainstem auditory-evoked potentials. Brainstem auditory-evoked potentials of the 20 iron-deficient infants were not significantly different from those of the control group that included 20 healthy age-matched infants. Furthermore, there was not a statistically significant difference between the brainstem auditory-evoked potentials of the study group performed before and 3 months after oral iron therapy. Although we could not demonstrate a hearing loss in infants with moderate iron-deficiency anemia in this study, the relationship between severe iron-deficiency anemia and hearing loss or auditory dysfunction remains to be determined.
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Anemia Ferropénica/fisiopatología , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Anemia Ferropénica/complicaciones , Vías Auditivas/fisiopatología , Preescolar , Nervio Coclear/fisiopatología , Femenino , Trastornos de la Audición/diagnóstico , Trastornos de la Audición/etiología , Trastornos de la Audición/fisiopatología , Humanos , Lactante , MasculinoRESUMEN
We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.
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Anomalías Múltiples/genética , Deformidades Congénitas de las Extremidades/genética , Cuero Cabelludo/anomalías , Alopecia/genética , Calcinosis/genética , Niño , Epilepsia/genética , Femenino , Genes Recesivos , HumanosRESUMEN
BACKGROUND: Congenital cytomegalovirus infection is a severe condition. When acquired after birth prognosis is less severe although sensorial sequelae and risks justify treatment. CASE REPORT: A 2.5 year old infant with hepatitis due to cytomegalovirus infection acquired after birth was treated with intravenous ganciclovir (7.5 mg/kg b.i.d for 2 weeks then 10 mg/kg three times a week for 2 months. No side effect or toxicity was observed and the patient recovered without sequellae. DISCUSSION: In our experience, in addition to severe and symptomatic congenital cytomegalovirus infections, ganciclovir can be used in the treatment of less severe symptomatic acquired cytomegalovirus in infants.
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Antivirales/uso terapéutico , Infecciones por Citomegalovirus/tratamiento farmacológico , Ganciclovir/uso terapéutico , Hepatitis Viral Humana/tratamiento farmacológico , Antivirales/administración & dosificación , Infecciones por Citomegalovirus/diagnóstico , Ganciclovir/administración & dosificación , Hepatitis Viral Humana/diagnóstico , Humanos , Lactante , Inyecciones Intramusculares , MasculinoRESUMEN
The aim of this study was to investigate the relationship between oxidative stress and chronic daily headache (CDH) in children. Although there are reports that oxidative injury may play a role in the pathophysiology of some neurologic disorders, such as migraine and epilepsy, by disrupting or destroying cell membranes through the formation of free radical and reactive oxygen species, the pathophysiology of headache is not clearly established. A total of 38 children (16 boys and 22 girls) with CDH, aged between 7 and 15 years, were enrolled in the study. The control group consisted of 39 healthy children (17 boys and 22 girls), aged between 7 and 14 years. The mean age was 10.9 ± 2.2 years for both the groups. Activities of erythrocyte superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx) as well as malondialdehyde (MDA) levels in all the children of both the groups were measured. Mean activities of erythrocyte SOD, CAT, and GPx as well as MDA levels were significantly higher in the study group than in the control group (p < 0.001). The findings of this study suggest that oxidative stress may play a causal or consequential role in children with CDH.
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Trastornos de Cefalalgia/sangre , Estrés Oxidativo , Adolescente , Estudios de Casos y Controles , Catalasa/sangre , Niño , Femenino , Glutatión Peroxidasa/sangre , Humanos , Masculino , Malondialdehído/sangre , Superóxido Dismutasa/sangreRESUMEN
BACKGROUND AND PURPOSE: The adverse effects of newer antiepileptic drugs are not well-known. This study assessed the impact of oxcarbazepine (OXC) treatment on bone turnover. METHODS: Forty-four children with idiopathic focal (and/or secondarily generalized) epilepsy who had been treated with OXC for more than 1 year were compared with 33 healthy, age- and sex-matched children. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, osteocalcin, calcitonin, and 25-hydroxyvitamin D, and bone mineral density were measured to evaluate and compare bone mineralization between the two groups. RESULTS: The serum levels of calcium, osteocalcin, 25-hydroxyvitamin D, and bone mineral density did not differ significantly between the study and control groups. However, serum levels of parathyroid hormone, alkaline phosphatase, phosphorus, and calcitonin differed significantly between the two groups. CONCLUSIONS: These findings suggest that OXC treatment leads to secondary hyperparathyroidism with high-turnover bone disease and/or impaired intestinal calcium absorption.
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Infecciones por Acinetobacter/tratamiento farmacológico , Acinetobacter baumannii , Ampicilina/uso terapéutico , Antibacterianos/uso terapéutico , Meningitis/tratamiento farmacológico , Sulbactam/uso terapéutico , Infecciones por Acinetobacter/complicaciones , Farmacorresistencia Bacteriana Múltiple , Femenino , Humanos , Lactante , Meningitis/microbiologíaAsunto(s)
Neoplasias Epidurales/patología , Seronegatividad para VIH , Linfoma de Células B/patología , Linfoma de Células B Grandes Difuso/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Sistema Nervioso Central/patología , Niño , Neoplasias Epidurales/tratamiento farmacológico , Femenino , Humanos , Linfoma de Células B/tratamiento farmacológico , Linfoma de Células B Grandes Difuso/tratamiento farmacológicoRESUMEN
Klippel-Trenaunay syndrome (KTS) is a rare disorder characterised by congenital vascular hamartomas, limb hypertrophy, lymphangiomas and atresia of lymph vessels with non-pitting oedema. A 6-year-old girl with KTS was referred to our hospital for evaluation of intractable seizures. In addition to findings consistent with KTS, we also found hemimegalencephaly, retroperitoneal lymphangioma and double inferior vena cava. All of these associations in the same patient with KTS are unique in the English literature. We report on the multidedector CT and MRI features of such an unusual case.
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Neoplasias Renales/diagnóstico , Síndrome de Klippel-Trenaunay-Weber/complicaciones , Linfangioma/diagnóstico , Malformaciones del Desarrollo Cortical/diagnóstico , Vena Cava Inferior/anomalías , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X/métodosRESUMEN
Although biopsy of the parotid gland is occasionally necessary for diagnostic purposes, surgeons hesitate to perform a biopsy because of the possible adverse effects, such as facial scarring or damage to facial nerves. An intraoral technique was used for biopsy of a parotid gland of a young woman. The procedure was successful; a diagnosis was made and there was no facial scarring. The potential hazards must be weighed against the benefits.
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Biopsia/métodos , Glándula Parótida/diagnóstico por imagen , Enfermedades de las Glándulas Salivales/diagnóstico , Adulto , Calcio/sangre , Cloruros/sangre , Femenino , Humanos , Potasio/sangre , Enfermedades de las Glándulas Salivales/diagnóstico por imagen , Sialografía , Sodio/sangreRESUMEN
A case report of a patient with amyloidosis presented in which macroglossia and bilateral carpal tunnel syndrome were the initial features and myeloma was the probable underlying cause.
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Amiloidosis/complicaciones , Síndrome del Túnel Carpiano/complicaciones , Macroglosia , Mieloma Múltiple/complicaciones , Lengua , Humanos , Macroglosia/complicaciones , Masculino , Persona de Mediana Edad , Sacro , Neoplasias de la Columna Vertebral/complicaciones , Enfermedades de la Lengua/complicacionesRESUMEN
The diagnosis of Sjögren's syndrome, a multi-systemic disease, is often difficult. Sialography is useful; however, biopsy of labial salivary glands is a simple procedure that aids significantly in arriving at a positive diagnosis. Treatment of the disease is usually on the basis of symptoms.