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2.
Nephron Clin Pract ; 112(3): c199-204, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19439991

RESUMO

BACKGROUND/AIM: The aim of this retrospective study was to evaluate the presentation, clinical and pathological manifestations and outcome of the Henoch-Schönlein purpura (HSP) nephritis in children. METHODS: Clinical and laboratory data of 443 children with HSP nephritis aged between 3 and 16 years from 16 pediatric nephrology reference centers were analyzed retrospectively. The biopsy findings were graded according to the classification developed by the International Study of Kidney Disease in Children (ISKDC). RESULTS: Renal biopsy was performed in 179 of the patients with HSP nephritis. The most common presenting clinical finding in patients who were biopsied was nephrotic range proteinuria (25%) which was followed by nephritic-nephrotic syndrome (23.5%). The biopsy findings according to the ISKDC were as follows: class I: 8.3%; II: 44.1%; III: 36.3%; IV: 6.7%; V: 3.3%; VI: 1.1%. All of the patients who developed end-stage renal disease had nephritic-nephrotic syndrome at presentation. Of 443 patients, 87.2% had a favorable outcome and 12.8% had an unfavorable outcome. The overall percentage of children who developed end-stage renal disease at follow-up was 1.1%. Logistic regression analysis did not show any association of initial symptoms and histology with outcome. CONCLUSION: In the presented cohort, the presence of crescents in the first biopsy or presenting clinical findings did not seem to predict the outcome of HSP nephritis in children. We conclude that children with HSP nephritis even with isolated microscopic hematuria and/or mild proteinuria should be followed closely.


Assuntos
Vasculite por IgA/epidemiologia , Vasculite por IgA/patologia , Nefrite/epidemiologia , Nefrite/patologia , Adolescente , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Incidência , Masculino , Reprodutibilidade dos Testes , Medição de Risco , Fatores de Risco , Sensibilidade e Especificidade , Turquia/epidemiologia
4.
Otolaryngol Head Neck Surg ; 136(6): 942-5, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17547984

RESUMO

OBJECTIVE: Our study aim was to investigate the effects of fine-needle biopsy used for thyroid nodules on serum thyroid hormone levels. STUDY DESIGN: A total of 25 patients who had solid nodules of the thyroid gland and normal thyroid hormone levels underwent diagnostic fine-needle biopsy for a nodule of the thyroid gland. METHODS: Venous blood samples were drawn from the cases for measurement of serum total T(3) and T(4), free T(3) and T(4), thyroid-stimulating hormone, and thyroglobulin levels before, immediately after, and 30 minutes after the initial biopsy. RESULTS: Total T(3) and thyroglobulin levels were found to be significantly higher immediately and 30 minutes following fine-needle aspiration biopsy, compared to the baseline levels (P<0.05). CONCLUSION: Preliminary data suggest that thyroid hormone levels show a mean increase of about 20% immediately after fine-needle aspiration. SIGNIFICANCE: The implication of this finding on patient care should be determined on an individual basis.


Assuntos
Biópsia por Agulha Fina , Hormônios Tireóideos/sangue , Nódulo da Glândula Tireoide/patologia , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Tireoglobulina/sangue , Glândula Tireoide/patologia , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangue
6.
Otolaryngol Head Neck Surg ; 135(1): 85-9, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16815189

RESUMO

OBJECTIVE: The aim of this study was to assess the efficacy of inhaled morphine for preemptive analgesia in patients who undergo septoplasty or septorhinoplasty. STUDY PLAN AND METHODS: Eighty ASA I-II patients scheduled for septoplasty or septorhinoplasty were recruited and randomly divided into 2 groups that received different treatments 10 minutes prior to induction. The preemptive analgesia group (Group P, n = 40) received 65 mug kg(-1) morphine sulphate (a 3-mL volume) via an oral nebulizer, and the control group (Group C, n = 40) received 3 mL 0.9% sodium chloride (physiological saline) via the same type of nebulizer. Blood pressure, oxygen saturation, heart rate, time to first requirement for analgesia, and occurrence of nausea/vomiting were recorded. RESULTS: There were no significant differences between Groups P and C with respect to age, body weight, sex distribution, or duration of surgery. There was also no significant difference between the group frequencies of postoperative nausea/vomiting. The time to first requirement for analgesia was significantly longer in Group P than Group C. CONCLUSION: The results of this preliminary study suggest that a single dose of inhaled morphine administered preemptively prior to septoplasty or septorhinoplasty provides effective postoperative analgesia. EBM RATING: B-3b.


Assuntos
Analgésicos Opioides/administração & dosagem , Anestesia por Inalação/métodos , Morfina/administração & dosagem , Septo Nasal/cirurgia , Deformidades Adquiridas Nasais/cirurgia , Rinoplastia/métodos , Administração por Inalação , Adulto , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Masculino , Estudos Prospectivos , Resultado do Tratamento
7.
Kulak Burun Bogaz Ihtis Derg ; 16(1): 18-24, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16763410

RESUMO

OBJECTIVES: To investigate antibiotic sensitivities of Streptococcus pneumoniae, viridans streptococci, and group A hemolytic streptococci isolated from the culture materials obtained from the sinuses of patients undergoing functional endoscopic sinus surgery due to chronic sinusitis. PATIENTS AND METHODS: We recruited 93 patients (63 males, 30 females; mean age 36+/-17.5; range 19 to 68 years) who underwent functional endoscopic sinus surgery due to chronic sinusitis. Before surgical intervention, in order to eliminate a possible contamination from the skin and neighboring structures, nasal mucosa was cleansed with povidone-iodine solution. Nasal smear samples were obtained from all the patients before and after applying povidone-iodine solution. Streptococcus pneumoniae, viridans streptococci and group A hemolytic streptococci that were isolated from the cultures were tested for antibiotic sensitivity. RESULTS: The number of anaerobic bacteria isolated from 58 patients (62.3%) before applying povidone-iodine was 72, following the application of povidone-iodine a total of 16 microorganisms were identified from 12 patients (12.9%). Microorganisms were isolated from 95.6% (89/93) of the samples obtained from the maxillary sinuses and 91.3% (85/93) of the samples obtained from the ethmoid sinuses. The most commonly identified microorganisms from both sinuses were coagulase negative staphylococcus followed by viridans streptococci, coagulase positive staphylococcus, Streptococcus pneumoniae and group A hemolytic streptococci. For viridans streptococcal strains that were isolated, 33.3% were resistant to tetracycline, 23.8% to chloramphenicol, and 19.04% to penicillin. Hemolytic streptococci strains were sensitive to penicillin, ofloxacin, ceftriaxone, and cefepime in all the groups; however, they had 50% resistance to erythromycin and chloramphenicol and 100% resistance to tetracycline. The resistance pattern of the isolated Streptococcus pneumoniae strains were as follows: 25% to penicillin, 66.6% to trimethoprim/sulfamethoxazole, 41.6% to erythromycin, 58.3% to tetracycline, 33.3% to chloramphenicol and 16.6% to rifampin. All of the isolated strains were sensitive to vancomycin. CONCLUSION: We suggest that identification of strains that are resistant to penicillin and other antibiotics is an important tool for choosing empirical treatment for Streptococcus pneumoniae, viridans streptococci, and group A hemolytic streptococci in clinical practice. Viridans streptococci which are frequently isolated from chronic sinusitis patients should be kept in mind.


Assuntos
Antibacterianos/farmacologia , Farmacorresistência Bacteriana , Sinusite/tratamento farmacológico , Sinusite/microbiologia , Streptococcus/efeitos dos fármacos , Adulto , Idoso , Antibacterianos/uso terapêutico , Doença Crônica , Seio Etmoidal/microbiologia , Feminino , Humanos , Masculino , Seio Maxilar/microbiologia , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Sinusite/patologia , Streptococcus/classificação , Streptococcus pneumoniae/efeitos dos fármacos , Estreptococos Viridans/efeitos dos fármacos
8.
Int Urol Nephrol ; 38(1): 149-52, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16502071

RESUMO

INTRODUCTION: Pyelonephritis-induced renal scarring in children is a major predisposing factor for proteinuria, hypertension, and ultimate renal failure. The aim of this study was to investigate and compare the efficacy of Tc99m dimercaptosuccinic acid (Tc-DMSA) renal scintigraphy and renal ultrasonography (USG) in detecting renal scars in children with primary vesicoureteral reflux (VUR). MATERIALS AND METHODS: Tc-DMSA scan and USG studies were done in 62 children who were admitted to our clinic between 1997 and 2003 because of documented urinary tract infection (UTI) and diagnosed with primary VUR. Renal scarring detection rates of Tc-DMSA scan and USG were compared according to reflux grades. RESULTS: In the whole group, renal scars were detected by Tc-DMSA scan and USG in 55% and 38% of refluxing units, respectively. Detection rates of Tc-DMSA and USG according to reflux grades were as follows: 47% and 29 % in low-grade VUR (grades 1 and 2), 46 % and 25% in mid-grade VUR (grade 3), 76% and 65% in high-grade VUR (grades 4 and 5), respectively. CONCLUSION: USG was found to be an inappropriate study in the detection of renal parenchymal scars, irrespective of the reflux grade. In this study, Tc-DMSA scan detected scars in 35% of kidneys reported to be normal on USG.


Assuntos
Cicatriz/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Refluxo Vesicoureteral/complicações , Adolescente , Criança , Pré-Escolar , Cicatriz/etiologia , Feminino , Humanos , Lactente , Nefropatias/etiologia , Masculino , Cintilografia , Compostos Radiofarmacêuticos , Estudos Retrospectivos , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Ácido Dimercaptossuccínico Tecnécio Tc 99m , Ultrassonografia
9.
Kulak Burun Bogaz Ihtis Derg ; 14(3-4): 92-5, 2005.
Artigo em Turco | MEDLINE | ID: mdl-16227732

RESUMO

A seven-day-old female newborn was examined for a mass protruding from the mouth. Physical examination showed a smooth and pedicled mass with normal mucosal tissue, 3x2 cm in size, originating from the maxillary alveolar edge on the upper incisor and canine teeth. The mass was excised under general anesthesia. Histopathologic diagnosis was congenital epulis. No recurrence was observed during postoperative six months. Congenital epulis is a benign tumor. It should be dealt with surgically if it significantly affects respiratory and alimentary functions.


Assuntos
Doenças da Gengiva/diagnóstico , Neoplasias Gengivais/diagnóstico , Diagnóstico Diferencial , Feminino , Doenças da Gengiva/congênito , Doenças da Gengiva/patologia , Doenças da Gengiva/cirurgia , Neoplasias Gengivais/congênito , Neoplasias Gengivais/patologia , Neoplasias Gengivais/cirurgia , Humanos , Recém-Nascido
10.
Indian Pediatr ; 42(7): 686-91, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16085970

RESUMO

In this study, 78 middle ear aspiration samples from 59 children between the ages of 2 14 who have undergone myringotomy under general anesthesia were included. The presence of DNA genome of Chlamydia trachomatis was analyzed with polymerase chain reaction in the aspiration material. The relationship between the nature of the effusion fluid and the presence of Chlamydia trachomatis was investigated. Of the seventy eight middle ear effusions, 26 (33.3%) were serous, 31 were (39.7%) mucoid and 21 (26.9%) were sero mucoid in nature. Chlamydia trachomatis DNA genome was identified in seven (8.9%) effusion samples. Of these, three were mucoid (42.8%), three were serous (42.8%) and one was sero mucoid (14.2%) in character. We think that during the bacteriological analyses carried out for the cases of otitis media with effusion, Chlamydia trachomatis should be taken into consideration both at the time of diagnosis and the treatment.


Assuntos
Chlamydia trachomatis/isolamento & purificação , Exsudatos e Transudatos/microbiologia , Otite Média com Derrame/microbiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase
11.
Rhinology ; 42(3): 131-6, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15521665

RESUMO

AIM OF THE STUDY: To investigate the pathogenicity and antibiotic resistance of coagulase-negative staphylococci (CNS) isolated from the maxillary and ethmoid sinuses of patients undergoing endoscopic sinus surgery for chronic sinusitis. PATIENTS AND METHODS: Ninety-three patients (63 males, 30 females) aged between 19 - 68 years, who had undergone functional endoscopic sinus surgery (FESS) for chronic sinusitis, were included in the study. Nasal mucosa, skin and adjacent structures were cleansed with povidone-iodine solution before surgery to prevent a probable contamination. In all patients, nasal swabs were taken before and after the application of povidone-iodine solution. Colonies isolated and identified as Staphylococci in cultures were further investigated for pathogenicity and antibiotic susceptibility. Slime test was used to determine the pathogenicity of CNS. The relationship between antibiotic resistance of pathogenic and non-pathogenic CNS was compared by chi2 analysis. RESULTS: While bacterial growth rate was 62.3% in nasal swab cultures taken before the application of povidone-iodine solution, it decreased to 12.9% after the application of solution. Microorganisms were isolated in 95.6% of cultures taken from maxillary sinuses and in 91.3% of cultures obtained from ethmoid sinuses during the FESS. The most frequently isolated microorganism in each of the sinuses was CNS. Slime test was carried out in 30 CNS isolated. Twelve of these were slime positive and 18 were slime negative. While 83.3% of CNS isolated was resistant to penicilin, all of CNS were sensitive to vancomycin and teikoplanine. The difference between slime positive and slime negative CNS for gentamicin and ciprofloxacin resistance was statistically significant (p<0.05). CONCLUSION: We consider that the pathogenicity tests like slime production and antimicrobial susceptibilities of CNS frequently isolated from the patients with chronic sinusitis should be investigated and also these microorganisms should be kept in mind in the selection of empiric treatment.


Assuntos
Farmacorresistência Bacteriana , Seio Etmoidal/microbiologia , Sinusite Etmoidal/microbiologia , Seio Maxilar/microbiologia , Sinusite Maxilar/microbiologia , Staphylococcus/efeitos dos fármacos , Staphylococcus/patogenicidade , Adulto , Idoso , Aderência Bacteriana , Coagulase/metabolismo , Endoscopia , Sinusite Etmoidal/cirurgia , Feminino , Humanos , Masculino , Sinusite Maxilar/cirurgia , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade
12.
J Laryngol Otol ; 118(9): 688-93, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15509365

RESUMO

The aim of this article is to evaluate the role of allergy in the pathogenesis of Meniere's disease by means of cytokine profiles, allergic parameters and lymphocyte subgroups. A total of 46 patients aged between 26-68 years diagnosed with Meniere's disease between 1993-2002 were recruited to this study. The control group consisted of 46 healthy volunteers who were from the same age group, living in the same region and possessing similar socioeconomic indicators. Lymphocyte subgroups were measured from the peripheral blood by employing Becton Dickinson (BD) monoclonal CD4, CD8, CD23 antibodies. IFN-gamma, IL4, total IgE levels, and specific IgE levels pertaining to tree, fungus, fruit, egg-white, cow's milk, wheat flour, corn flour, beef, and rice allergens, in all seasons, were measured and compared in the patient and control groups. In patient serum samples there were positive correlations between CD23 and IgE, CD8 and IgE, CD4/CD8 and IgE, and CD23 and CD8 (p <0.01). There were negative correlations between IL-4 and IFN-gamma, IFN-gamma and IgE, and a positive correlation between IL-4 and IgE. Total IgE levels were above the normal values in 19/46 (41.3 per cent) of the patient group, but the ratio was nine out of 46 (19.5 per cent) in the control group. A history of allergy was found in 31/46 (67.3 per cent) when the patients were questioned. The ratio of a history of allergy was 16/46 (34.7 per cent) in the control group. When specific IgE levels were evaluated the ratio of patients with all the panels negative was eight out of 46 (17.9 per cent), but it was 31/46 (67.3 per cent) in the control group. This study found that the prevalence of allergy was higher in patients with Meniere's disease than in the control group. Thus the authors suggest that allergy should be taken into account when patients with this disease are treated.


Assuntos
Alérgenos/imunologia , Citocinas/sangue , Hipersensibilidade/complicações , Doença de Meniere/etiologia , Adulto , Idoso , Antígenos CD/sangue , Feminino , Hipersensibilidade Alimentar/complicações , Hipersensibilidade Alimentar/imunologia , Humanos , Hipersensibilidade/imunologia , Imunoglobulina E/sangue , Interferon gama/sangue , Interleucina-4/sangue , Subpopulações de Linfócitos/imunologia , Masculino , Doença de Meniere/imunologia , Pessoa de Meia-Idade
13.
Int J Pediatr Otorhinolaryngol ; 68(8): 1069-74, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15236895

RESUMO

OBJECTIVE: The object of this study was to determine the prevalence of otitis media with effusion (OME) in first and second grade primary school students, to analyze the causes of the difference in the prevalence, to define the effect of OME on the academic performance of the children and to investigate a correlation between the prevalence of OME and Bacillus Calmette-Guerin (BCG) vaccination. STUDY PLAN AND METHODS: The study was conducted during the September-November, 2002 period in Elazig. A total of 3675 clinically healthy primary school children attending primary schools in the central district of Elazig, living in the same region and of a similar socioeconomic status and age group were included in the study. Of the 3675 children, 2042 were in their first and 1633 in their second grade of primary school. The routine ear-nose and throat examinations of the children were carried out at their schools by the same medical team. The tympanometric test was performed in children diagnosed with OME following otoscopic examination. A scale measuring the academic performance of the children was developed. This scale was filled in by the student's teachers prior to physical examination. RESULTS: OME was diagnosed in 64 out of 2042 (3.1%) first grade and in 25 out of 1633 (1.5%) second grade students. The difference between the percentages of OME in first and second grade students was statistically significant (P < 0.05). The frequency of other ear-nose and throat pathologies accompanying OME was similar to those in children without OME. There was no statistically significant difference between the academic performances of children with and without OME (P > 0.05). CONCLUSION: The analysis of risk factors for OME revealed no difference between first and second grade students. The reason for the difference in the prevalence of OME between first and second grade students may be the positive effect on the immune system of the BCG vaccine which had been administered to the second grade students 4 months previously.


Assuntos
Vacina BCG , Aprendizagem/fisiologia , Otite Média com Derrame/epidemiologia , Otite Média com Derrame/etiologia , Vacina BCG/imunologia , Criança , Feminino , Humanos , Desenvolvimento da Linguagem , Masculino , Otite Média com Derrame/imunologia , Prevalência , Fatores de Risco , Turquia/epidemiologia
14.
Kulak Burun Bogaz Ihtis Derg ; 12(1-2): 31-4, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-16010094

RESUMO

OBJECTIVES: We examined the risk for the development of bacteremia during tonsillectomy and evaluated the presence of an association between bacteremia and preoperative serum immunoglobulin levels. PATIENTS AND METHODS: The study included 40 patients (16 males, 24 females; mean age 16.8 years; range 5 to 35 years) who underwent tonsillectomy with the use of the dissection-snear technique. Preoperatively, venous blood samples were collected from all the patients to determine serum immunoglobulin levels and the presence or absence of bacteremia. Bacteremia was also investigated in blood samples postoperatively. RESULTS: There was no growth in the preoperative blood cultures, but bacteremia was documented in 10 patients (25%) after tonsillectomy. Increased serum IgG levels were determined in 15 patients before operation, seven of whom developed bacteremia after tonsillectomy (p<0.05). There was no correlation between postoperative bacteremia and preoperative serum IgM or IgA levels (p>0.05). CONCLUSION: Although our current knowledge does not allow to predict bacteremia following tonsillectomy in advance, the finding that seven of 10 patients who developed bacteremia had increased preoperative IgG levels draws attention to serum IgG, especially in patents in whom bacteremia may present additional risks.


Assuntos
Bacteriemia/diagnóstico , Imunoglobulina G/sangue , Complicações Pós-Operatórias/diagnóstico , Tonsilectomia , Adolescente , Adulto , Anticorpos Monoclonais , Bacteriemia/sangue , Bacteriemia/etiologia , Bacteriemia/microbiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/etiologia , Valor Preditivo dos Testes , Cuidados Pré-Operatórios
15.
Kulak Burun Bogaz Ihtis Derg ; 13(3-4): 51-6, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-16055981

RESUMO

OBJECTIVES: Otitis media with effusion (OME) is one of the major causes of hearing loss in childhood. In this study, the role and the importance of allergy in the etiology of OME was evaluated with reference to the immune system and the cytokines. PATIENTS AND METHODS: Seventy-eight ears of 59 patients who had undergone myringotomy with the diagnosis of OME were included in this study. Serum samples of 26 healthy children who were in the same age group and were living in the same region under similar socioeconomic circumstances were examined as the control group. RESULTS: Interferon (IFN)-gamma levels were significantly lower and IL-4 and IgE levels were significantly higher in the serum samples of the patient group when compared with those of the control group (p<0.05). A positive correlation was found between IL-4 and IgE in the serum samples of patients (p<0.01). However, there were negative correlations between IFN-gamma and both IgE and IL-4 levels, that were not statistically significant. CONCLUSION: T-helper polarization suggests that allergy may have a role in the etiology of OME. Therefore, it should be kept in mind in the treatment of OME.


Assuntos
Citocinas/sangue , Hipersensibilidade/complicações , Interferon gama/sangue , Otite Média com Derrame/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulina E/sangue , Interleucina-4/sangue , Masculino , Otite Média com Derrame/sangue , Otite Média com Derrame/imunologia
16.
J Hazard Mater ; 90(2): 157-67, 2002 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-11827719

RESUMO

The catalytic combustion of carbon tetrachloride (CCl4) by metal oxide catalysts coated on the monolith support was investigated. The prepared catalysts were tested at temperatures between 300 and 800 degrees C and at varying gas hourly space velocity (GHSV) values with an excess air ratio of 3100%. The catalyst, whose composition was 18% Cr2O3, 2% Ce2O3 and 80% gamma-Al2O3, was found to almost completely oxidize CCl4. The operating conditions proposed are 5702 h(-1) for GHSV, 3100% excess air and a temperature slightly higher than 800 degrees C. The reaction rate expression was found to be independent of oxygen partial pressure but strongly dependent on CCl4 partial pressure.


Assuntos
Tetracloreto de Carbono/química , Solventes/química , Eliminação de Resíduos Líquidos/métodos , Catálise , Incineração , Pressão , Temperatura
17.
J Pediatr Endocrinol Metab ; 14(2): 215-20, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11305802

RESUMO

A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.


Assuntos
Deficiências do Desenvolvimento/complicações , Doenças do Sistema Endócrino/etiologia , Fácies , Deficiência Intelectual/complicações , Convulsões/classificação , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Síndrome
18.
J Pediatr Surg ; 36(2): 368-72, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11172437

RESUMO

BACKGROUND/PURPOSE: The Marmara earthquake, which destroyed more than 150,000 buildings and caused 15,000 deaths and 40,000 casualties, resembled the Hanshin-Awaji earthquake in many respects. Previous reports from similar disasters from several centres have not addressed trauma in the pediatric age group. The aim of this study was to analyze the clinical and laboratory data of pediatric trauma patients referred to a tertiary center after the 1999 Marmara earthquake. METHODS: The medical records of 33 injured children, aged from 14 days to 16 years, were reviewed retrospectively. The time spent buried under rubble, type of injury, treatment given, complications, laboratory data, and development of acute renal failure (ARF) were noted. Patients in whom ARF developed were treated with a standard regimen of fluid replacement, alkalinization, and diuretics. Limbs with crush injuries were managed as conservatively as possible. RESULTS: All except 3 cases were evacuated from under the debris of collapsed buildings after 1 to 110 (mean, 30.04 +/- 6.48) hours. Seventy-eight percent were transported to our center within the first 3 days. Crush injury (CI) was present in 15 cases, and in 10 of them ARF had already developed by admission. Although serum levels of creatinine were elevated (1.2 to 5 mg/dL) in all cases with ARF, hyperkalemia was observed in only 4. The mean serum creatinine kinase (CK) level of cases with crush syndrome (CS) was 6,040 +/- 4,158 U/L. No significant correlations were detected between the development of CS, age, the time spent under the rubble, the time before admission, or the number of crushed extremities. CONCLUSIONS: CI and CS were the most common entities encountered among our pediatric patients after the 1999 Marmara earthquake. The high incidence of ARF indicates the importance of medical management of this age group during rescue. Because neither laboratory data nor clinical findings predicted CS in our patients, we recommend close observation and monitoring of children with CI for the development of ARF.


Assuntos
Síndrome de Esmagamento/epidemiologia , Desastres , Traumatismo Múltiplo/epidemiologia , Injúria Renal Aguda/sangue , Injúria Renal Aguda/etiologia , Criança , Síndrome de Esmagamento/complicações , Síndrome de Esmagamento/diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Monitorização Fisiológica , Traumatismo Múltiplo/complicações , Traumatismo Múltiplo/diagnóstico , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Turquia/epidemiologia
19.
Proc Natl Acad Sci U S A ; 95(11): 6337-42, 1998 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-9600966

RESUMO

Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either autosomal dominant or recessive transmission are described. Mutations in the chloride-bicarbonate exchanger AE1 have recently been reported in four autosomal dominant dRTA kindreds, three of these altering codon Arg589. We have screened 26 kindreds with primary dRTA for mutations in AE1. Inheritance was autosomal recessive in seventeen kindreds, autosomal dominant in one, and uncertain due to unknown parental phenotype or sporadic disease in eight kindreds. No mutations in AE1 were detected in any of the autosomal recessive kindreds, and analysis of linkage showed no evidence of linkage of recessive dRTA to AE1. In contrast, heterozygous mutations in AE1 were identified in the one known dominant dRTA kindred, in one sporadic case, and one kindred with two affected brothers. In the dominant kindred, the mutation Arg-589/Ser cosegregated with dRTA in the extended pedigree. An Arg-589/His mutation in the sporadic case proved to be a de novo mutation. In the third kindred, affected brothers both have an intragenic 13-bp duplication resulting in deletion of the last 11 amino acids of AE1. These mutations were not detected in 80 alleles from unrelated normal individuals. These findings underscore the key role of Arg-589 and the C terminus in normal AE1 function, and indicate that while mutations in AE1 cause autosomal dominant dRTA, defects in this gene are not responsible for recessive disease.


Assuntos
Acidose Tubular Renal/genética , Antiporters/genética , Mutação , Adolescente , Adulto , Criança , Pré-Escolar , Antiportadores de Cloreto-Bicarbonato , Feminino , Genes Dominantes , Genes Recessivos , Humanos , Lactente , Recém-Nascido , Masculino
20.
Nat Genet ; 17(2): 171-8, 1997 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9326936

RESUMO

Analysis of patients with inherited hypokalaemic alkalosis resulting from salt-wasting has proved fertile ground for identification of essential elements of renal salt homeostasis and blood-pressure regulation. We now demonstrate linkage of this phenotype to a segment of chromosome 1 containing the gene encoding a renal chloride channel, CLCNKB. Examination of this gene reveals loss-of-function mutations that impair renal chloride reabsorption in the thick ascending limb of Henle's loop. Mutations in seventeen kindreds have been identified, and they include large deletions and nonsense and missense mutations. Some of the deletions are shown to have arisen by unequal crossing over between CLCNKB and the nearby related gene, CLCNKA. Patients who harbour CLCNKB mutations are characterized by hypokalaemic alkalosis with salt-wasting, low blood pressure, normal magnesium and hyper- or normocalciuria; they define a distinct subset of patients with Bartter's syndrome in whom nephrocalcinosis is absent. These findings demonstrate the critical role of CLCNKB in renal salt reabsorption and blood-pressure homeostasis, and demonstrate the potential role of specific CLCNKB antagonists as diuretic antihypertensive agents.


Assuntos
Síndrome de Bartter/genética , Canais de Cloreto/genética , Mutação , Síndrome de Bartter/classificação , Síndrome de Bartter/metabolismo , Sequência de Bases , Canais de Cloreto/química , Canais de Cloreto/metabolismo , Cromossomos Humanos Par 1/genética , Troca Genética , Primers do DNA/genética , Éxons , Feminino , Ligação Genética , Humanos , Íntrons , Alça do Néfron/metabolismo , Masculino , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Deleção de Sequência
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