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1.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 3-5, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630706

RESUMO

Diabetes insipidus (DI) is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (centraldiabetesinsipidus, CDI) or renalinsensitivity to AVP (nephrogenicdiabetesinsipidus, NDI). We report a case of a child with congenital NDI.


Assuntos
Diabetes Insípido Nefrogênico/congênito , Eletrólitos/análise , Insuficiência de Crescimento , Criança , Humanos , Poliúria
2.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 7-11, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630707

RESUMO

The purpose of this article is to review the main congenital anomalies of kidneys and urinary tract that can be diagnosed prenatally and postnatally by imaging technique. The incidence of congenital anomalies of the kidney and urinary tract during the past decade has been estimated to be 0.4 to 4.0 cases per 1000 births. Congenital kidney disease can evolve in chronic disease in childhood and in adulthood. A diagnostic imaging of the various congenital renal and urological conditions allows pediatricians to make a correct diagnosis and treatment. Because of the concerns about long-term effects of ionizing radiation, the most commonly and first used imaging modality for evaluation of the urinary system is ultrasound.


Assuntos
Nefropatias/congênito , Nefropatias/diagnóstico por imagem , Rim/patologia , Sistema Urinário/patologia , Humanos , Recém-Nascido , Rim/diagnóstico por imagem , Pediatria , Sistema Urinário/diagnóstico por imagem
3.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 13-18, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630708

RESUMO

Nephrotic Syndrome (NS) is a rare diseases (around 2-7 cases per 100.000 children per year) characterized by proteinuria ≥50 mg/kg/day (or ≥40 mg/m2/h) or a proteinuria/creatininuria ratio >2 (mg/mg); hypoalbuminaemia less than 25 g/l and edema. The protein leakage, with the consequent hypoalbunaemia and edema, due to podocyte alterations may be caused by genetic diseases, immunological mechanisms, infections, toxins or malignancy. However, most commonly the exact etiology is unknow. The idiopathic NS may be classified based on response to corticosteroid therapy or the hytological appearance. The first classification identifies steroid-resistant NS (no response after 4 weeks of steroid therapy); frequently relapsing NS (≥ 2 relapses in first 6 months or ≥4 relapses in 1-year); steroid dependent NS (relapses during steroid decalage or within 2 weeks from steroid therapy interruption). The hystological classification is based on light and electron microscopy after renal biopsy, which is indicated in case of onset disease before 1 year or after 12 years of age. Macroscopic hematuria: persistent hypertension and/or microscopic hematuria and/or low plasma C3 renal failure not related to hypovolemia; steroid resistence: secondary or relatedsyndromes NS. Minimal change disease (MCD) is the most common form of idiopahtic NS in children, with good response to steroid treatment, and it is characterized by normal glomerular appearance on light microscopy and evidence of podocyte foot alterations on electron microscopy, due to immunological related damage. Focal segmental glomerulosclerosis (FSGS) is described inidiopahtic NS, particularly in steroiddependent or steroid-resistant forms, and is characterized by evidence of focal glomerular damage with secondary sclerosis and adhesion with Bowman's capsule; the electron appearance is the same of MCD one. Recent authors hypotizethat the FSGS is an evolution of MCD. These 2 idiopathic NS forms may be expression of the same immunological disease, with 2 different severity grades; so they may be considered different moments of the same disease spectrum. Less common idiopathic NS forms are membrano proliferative glomerulonephritis; membranous nephropathy; IgM-nephropathy; C1q nephropathy and thin basement membrane disease (1, 2, 3).


Assuntos
Síndrome Nefrótica/imunologia , Criança , Glomerulosclerose Segmentar e Focal/patologia , Hematúria/patologia , Humanos , Podócitos , Proteinúria/patologia
4.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 45-51, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630713

RESUMO

Nocturnal enuresis (NE) was defined by the World Health Organization (ICD-10) and the American Psychiatric Association (DSM-5) as bed-wetting in children aged >5 years. In cases of mental retardation, the developmental age may be equivalent to 5 years. In this review, we focus on the current knowledge about the etiology of enuresis and the most recent therapeutical options. Both non-pharmacological and pharmacological therapies are included, although the relative effectiveness of each remains uncertain. To date, motivational, alarm and drug therapies are the mainstay of treatment. Alarm therapy remains the first-line treatment modality for NE, while desmopressin is the most commonly used medical treatment.


Assuntos
Desamino Arginina Vasopressina/uso terapêutico , Enurese Noturna/terapia , Criança , Pré-Escolar , Humanos
5.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 59-63, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630715

RESUMO

Anderson-Fabry Disease (AFD) is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficient or absent activity of the lysosomal enzyme, α-galactosidase A, resulting in the progressive multisystem lysosomal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3). Among the wide spectrum of clinical signs and symptoms and the life-threatening complications of Fabry disease, renal failure causes significant morbidity and mortality. Various evidence shows that the accumulation of Gb3 in different renal cells is present since the first years of life, many years and usually decades before manifest symptoms and signs of renal involvement. Early renal damage can be demonstrated by clinical signs as microalbuminuria and proteinuria, developing as early as in the second decade of life. A decline in GFR is uncommon at paediatric ages but may be seen as early as adolescence. Renal biopsy is rarely used in paediatric patients with Fabry disease although evidence shows that it may be considered a valid tool for the diagnosis of early and potentially reversible nephropathy, as well as for the evaluation of the effectiveness of enzyme replacement therapy (ERT). Although there is consensus in considering the early initiation of ERT as the only tool able to prevent the progression of nephropathy, the issue on the correct timing for the onset of ERT in pediatric age remains open in the management of this chronic and progressive disease.


Assuntos
Doença de Fabry/fisiopatologia , Rim/fisiopatologia , Criança , Progressão da Doença , Terapia de Reposição de Enzimas , Humanos , Triexosilceramidas , alfa-Galactosidase
6.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 79-85, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630719

RESUMO

Obesity in children has been recognized as a major underlying factor of the pathogenesis of several diseases and a reduced life expectancy. This study aims to verify if clinical parameters, such as waist circumference and/or body mass index and biohumoral and inflammatory parameters can help predict cardiac structural and functional alterations, through an echocardiogram test in obese children and adolescents. Children were prospectively enrolled at the AUOC outpatients' department of Emergency Paediatrics, University Hospital, Messina, from June to December 2017. Clinical, metabolic parameters and an inflammation marker (HMGB1) were evaluated and a transthoracic echocardiogram was carried out. Twenty-two obese subjects were prospectively enrolled.HMGB1 values were 12.6 ± 2ng/ml, significantly higher compared to a previously studied healthy control group. A significant positive correlation was found both between total cholesterol levels and HMGB1 values (r=0.846, p=0.000) and between LDL cholesterol and HMBG1 values (r=0.663, p=0.001). No correlation was found between clinical, biohumoral and echocardiograph parameters. In obese children cardiac parameters obtained from echocardiogram tests may be in the normal range. However, other parameters may be altered in the early phase, showing that infantile obesity can compromise myocardial functions, even in the absence of comorbidities. Furthermore, the evaluation of concentrations of HMBG1 could explain how an initial inflammation can trigger the condition of meta-inflammation.


Assuntos
Cardiopatias/complicações , Obesidade Pediátrica/complicações , Adolescente , Índice de Massa Corporal , Criança , LDL-Colesterol/sangue , Proteína HMGB1/sangue , Humanos , Dados Preliminares , Estudos Prospectivos , Circunferência da Cintura
7.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 91-94, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630721

RESUMO

The natural history of children with end stage renal disease is dialysis until a transplant can be done. There are two types of dialysis: hemodialysis and peritoneal dialysis (1). Peritoneal dialysis is preferred in young children because getting the vascular access for hemodialysis is challenging (2). Catheters should be surgically placed in a paramedian or lateral abdominal region with an extremity located in Douglas' pouch.


Assuntos
Falência Renal Crônica/terapia , Ozônio/uso terapêutico , Diálise Peritoneal , Criança , Humanos
8.
Ann Dermatol Venereol ; 137(10): 630-4, 2010 Oct.
Artigo em Francês | MEDLINE | ID: mdl-20932443

RESUMO

INTRODUCTION: Fusarium are filamentous saprophytic brown fungi found in soil, on plants and outdoors. Invasive, necrotic fusarial skin infections are rare and are found in immunodepressed subjects. We report a case in a woman with no discernible immune deficiency. PATIENTS AND METHODS: A 24-year-old woman in good general health, pregnant at 34 weeks amenorrhoea, consulted for ulcerating, budding lesions with a necrotic centre over her entire body, but mainly localised on the cheeks and four limbs. The diagnosis of fusariosis due to Fusarium oxysporum was made on the basis of direct examination and repeated skin biopsy culture. All investigations were normal, and in particular, the patient had no detectable immune deficiency. Treatment was extremely difficult. The patient received amphotericin B, then voriconazole and terbinafine, ketoconazole and finally liposomal amphotericin. DISCUSSION: In immunocompetent subjects, fusarial species generally colonise the corneal layers of the skin. Our case was special in terms of the clinical aspect of the pseudotumoural lesions with a necrotic centre in an immunocompetent woman and in terms of the difficulty in treating her.


Assuntos
Dermatomicoses/diagnóstico , Dermatomicoses/imunologia , Fusarium , Imunocompetência/imunologia , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/imunologia , Úlcera Cutânea/diagnóstico , Úlcera Cutânea/imunologia , Adulto , Antifúngicos/uso terapêutico , Biópsia , Dermatomicoses/tratamento farmacológico , Dermatomicoses/patologia , Diagnóstico Diferencial , Quimioterapia Combinada , Feminino , Humanos , Necrose , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Complicações Infecciosas na Gravidez/patologia , Pele/patologia , Úlcera Cutânea/tratamento farmacológico , Úlcera Cutânea/patologia
9.
Arch Androl ; 52(3): 175-8, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16574598

RESUMO

Microdeletions in Yq11 are a common molecular cause of spermatogenic failure in men and are recurrently detected in about 10-15% of idiopathic azoospermia and severe oligozoospermia. Screening for AZF microdeletions is often performed by multiplex PCR. AZFc deletions, involving the DAZ gene, form the majority of these deletions. The aim of this study was to evaluate in a group of 34 Tunisian infertile patients (16 oligozoospermic and 18 azoospermic men) the prevalence of DAZ microdeletions using a rapid molecular strategy: the PCR-DGGE method based on the high degree of homology between the DAZ gene and its autosomally equivalent DAZLA gene. DAZ microdeletions were detected in 8.8% of patients. The three deleted patients have a 46, XY karyotype. Two of them were azoospermic and the other had an extreme oligo-asthenoteratozoospermia with a predominant abnormality: small round head spermatozoa (Y46). Our findings suggest that PCR-DGGE method, for detection of DAZ gene deletion, could be particularly useful as a first step in the diagnosis workup of nonobstructive azoospermia and severe oligozoospermia for three reasons. First, it is a simple and fast system; second, DAZ microdeletions are the most common Y deletions; and third, partial DAZ microdeletions and mosaicism may be recognized by PCR-DGGE while only deletions removing the whole DAZ gene cluster can be detected by STS-PCR [211]. Nevertheless, this procedure has limitations because other deletions of AZFa and AZFb may go undetected. Therefore, molecular investigation by multiplex PCR must be conducted in a second step according to European guidelines for the molecular diagnosis of Y chromosome microdeletions, particularly before ICSI procedures.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Y , Infertilidade Masculina/genética , Oligospermia/genética , Proteínas de Ligação a RNA/genética , DNA/análise , Proteína 1 Suprimida em Azoospermia , Humanos , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/epidemiologia , Masculino , Oligospermia/diagnóstico , Oligospermia/epidemiologia , Reação em Cadeia da Polimerase , Tunísia/epidemiologia
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