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1.
Int J Surg Case Rep ; 72: 133-136, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32535527

RESUMO

INTRODUCTION: Total thyroidectomy can be challenging in high-risk patients. Local cervical anesthesia with sedation is an alternative to general anesthesia. CASE PRESENTATION: A 33-year old male patient with cyanotic congenital heart disease due to unrepaired tricuspid atresia type Ic and associated pulmonary arterial hypertension presented with tachycardic atrial fibrillation and amiodarone-induced thyrotoxicosis resulting in recurrent hemodynamic instability. Because of difficulties controlling the thyrotoxic state, the indication for total thyroidectomy was established. Total thyroidectomy was subsequently performed using local anesthesia combined using a hypnosis-analgesia technique instead of intravenous sedation. The intervention and the post-operative course were uneventful. DISCUSSION: A well-established therapist-patient relationship is crucial for a successful induction of hypnosis. Patient motivation and expectations are equally important for a successful implementation of this approach. CONCLUSION: We conclude that hypnosis combined with local anesthesia provides an effective alternative in selected patients with very high anesthesiological risk.

2.
Ann Ig ; 31(4): 326-332, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31268117

RESUMO

BACKGROUND: Listeriosis is a rare infection affecting primarily pregnant women, the elderly and individuals with a weakened immune system and is caused by the ubiquitous bacterium Listeria monocytogenes. Infection during pregnancy can cause severe consequences especially for the fetus, leading to sepsis, premature delivery, stillbirth and miscarriage. STUDY DESIGN: A pilot observational study has been conducted in order to establish the prevalence of seroconversion of specific antibodies against a peculiar toxin belonging to L. monocytogenes, listeriolysin O (LLO), in a population of pregnant women from Senigallia (Central Italy) and to find correlations between anti-LLO antibodies seropositivity and health and nutritional information. A total of 60 women were screened for anti-LLO antibody positivity and interviewed during their pregnancies. Statistical analyses were performed to evaluate antibody prevalence in serum samples and potential risk factors. RESULTS: The seroprevalence resulted 18% (95% CI, 8.2 - 27.7%), corresponding to 11 pregnant women. Categorical principal component analysis and hierarchical cluster analysis revealed a significant correlation between anti-LLO positivity and gastrointestinal pain events and vomit, fever and diarrhea episodes, and a possible association with consumption of pre-cooked meal. No significant correlation was observed in women with a previous miscarriage or with miscarriage cases in their families. CONCLUSIONS: Findings from this pilot study will be used to design a wider study focused on the prevalence of Listeria-specific antibodies in pregnant women and could allow to the identification of nutritional and behavioral habits related to Listeria infection which could lead to significant clinical implications.


Assuntos
Anticorpos Antibacterianos/imunologia , Toxinas Bacterianas/imunologia , Proteínas de Choque Térmico/imunologia , Proteínas Hemolisinas/imunologia , Listeriose/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , Feminino , Humanos , Recém-Nascido , Itália , Listeria monocytogenes/isolamento & purificação , Projetos Piloto , Gravidez , Complicações Infecciosas na Gravidez/microbiologia , Estudos Soroepidemiológicos
3.
Sci Total Environ ; 624: 461-469, 2018 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-29268218

RESUMO

This study assessed the effects and removal options of the macrolide spiramycin, currently used for both in human and veterinary medicine- with a special focus on advanced oxidation processes based on heterogeneous TiO2_assisted photocatalysis. Spiramycin real concentrations were investigated on a seasonal basis in a municipal wastewater treatment plant (up to 35µgL-1), while its removal kinetics were studied considering both aqueous solutions and real wastewater samples, including by-products toxicity assessment. High variability of spiramycin removal by activated sludge treatments (from 9% (wintertime) to >99.9% (summertime)) was observed on a seasonal basis. Preliminary results showed that a total spiramycin removal (>99.9%) is achieved with 0.1gL-1 of TiO2 in aqueous solution after 80min. Integrated toxicity showed residual slight acute effects in the photocatalytic treated solutions, independently from the amount of TiO2 used, and could be linked to the presence of intermediate compounds. Photolysis of wastewater samples collected after activated sludge treatment during summer season (SPY 5µgL-1) allowed a full SPY removal after 80min. When photocatalysis with 0.1gL-1 of TiO2 was carried out in wastewater samples collected in winter season (SPY 30µgL-1) after AS treatment, SPY removal was up to 91% after 80min.


Assuntos
Fotólise , Espiramicina/isolamento & purificação , Águas Residuárias/química , Poluentes Químicos da Água/isolamento & purificação , Purificação da Água/métodos , Catálise , Titânio
4.
Int J Tuberc Lung Dis ; 20(11): 1554-1561, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27776600

RESUMO

SETTING: Blood interferon-γ inducible protein 10 (IP-10) has been proposed as a biomarker of disease activity for both tuberculosis (TB) and human immunodeficiency virus (HIV) infection. Urine IP-10 has been detected in adults with active TB, and its level decreases after successful anti-tuberculosis treatment. OBJECTIVE: To evaluate blood and urine IP-10 as biomarker of disease activity. DESIGN: Patients with HIV-TB and active TB were enrolled. Individuals with HIV infection only and healthy donors were included as controls. Blood and urine IP-10 levels were measured using an enzyme-linked immunosorbent assay. RESULTS: Of 39 active TB patients enrolled, 24 were HIV-infected and 15 were HIV-uninfected. Of 87 control subjects without active TB, 54 were HIV-infected and 33 were HIV-uninfected. IP-10 analysis was performed in patients with concomitant blood and urine sample collection. Blood IP-10 was associated with active TB, regardless of HIV infection status; urine IP-10 levels were increased in active TB patients, although the difference was significant in HIV-infected individuals only. Finally, in HIV-infected patients, both blood and urine IP-10 levels were inversely correlated with CD4 T-cell counts. CONCLUSION: These findings suggest that IP-10 could be used as a biomarker for disease activity (inflammation).


Assuntos
Quimiocina CXCL10/sangue , Quimiocina CXCL10/urina , Infecções por HIV/diagnóstico , Tuberculose/diagnóstico , Adulto , Biomarcadores/sangue , Biomarcadores/urina , Contagem de Linfócito CD4 , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Infecções por HIV/sangue , Infecções por HIV/urina , Humanos , Interferon gama/sangue , Interleucina-6/sangue , Masculino , Pessoa de Meia-Idade , Tuberculose/sangue , Tuberculose/urina , Adulto Jovem
5.
Eur Rev Med Pharmacol Sci ; 19(8): 1517-9, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25967728

RESUMO

Vascular damage and impairment play a crucial role in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). Nutraceutical supplements might have a role in reducing vascular damage, provided that their efficacy is proven by controlled studies and is supported by a mechanistic rationale. Therefore, the use of nutraceutical supplements can have some effects also in the prevention of NFLD. Epidemiological evidence correlates the intake of whole grain and whole-grain products with a reduced occurrence of vascular disease. Lisosan G is a powder obtained from Triticum Sativum (wheat), which is registered with the Italian Ministry of Health as a nutritional supplement. In vivo, Lisosan G has been shown to protect against cisplatin induced toxicity, and the use of this compound in the prevention of cirrhosis and steatosis has been recently been proposed thanks to its marked anti-oxidant activity. We discuss here the rationale for further investigation on this compound in the prevention of NAFLD.


Assuntos
Suplementos Nutricionais , Hepatopatia Gordurosa não Alcoólica/prevenção & controle , Extratos Vegetais/administração & dosagem , Doenças Vasculares/prevenção & controle , Humanos , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Preparações de Plantas , Substâncias Protetoras/administração & dosagem , Doenças Vasculares/complicações , Doenças Vasculares/diagnóstico
6.
Arq. bras. med. vet. zootec ; 64(6): 1717-1722, Dec. 2012. ilus, tab
Artigo em Português | LILACS | ID: lil-660244

RESUMO

Avaliou-se a utilização da ractopamina como promotor de crescimento para carpa húngara em experimento com 56 dias de duração, realizado em 12 tanques-rede de pequeno volume, utilizando-se 360 peixes com peso inicial de 18,64±1,25g. Foram testadas três quantidades de ractopamina, 7, 14 e 21ppm/kg, mais a dieta controle. Avaliaram-se o peso médio, o comprimento total, a altura, a taxa de crescimento específico e o fator de condição. Foram também analisadas a composição corporal, a deposição tecidual e a glicose plasmática dos peixes. Não foi observado efeito significativo da adição de ractopamina sobre as características de desempenho. Observou-se maior concentração de glicose, 61,67mg/dL, nos peixes alimentados sem a adição de ractopamina na dieta. A adição de ractopamina na dieta proporcionou maior quantidade de gordura corporal nos peixes e não afetou a quantidade de proteína. Conclui-se que a adição de ractopamina na dieta não é eficiente para juvenis de carpa húngara.


The use of ractopamine as a growth promoter for hungarian carp was evaluated in an experiment with a duration of 56 days, accomplished in 12 net cages of lower volume using 360 fish with initial weight of 18.64±1.25g. Three amounts of ractopamine, 7, 14 and 21ppm/kg, plus control diet were tested. The mean weight, total length, height, specific growth rate and condition factor were evaluated. Body composition, tissue deposition and fish plasmatic glucose were also analyzed. No significant effect of ractopamine addition was observed on the characteristics evaluated. A higher glucose concentration of 61.67mg/dL was observed in fish fed without the addition of ractopamine to the diet. The ractopamine inclusion in diets promotes higher body fat levels in fish and does not affect the amount of protein. The conclusion is that the addition of ractopamine in the diet is not efficient for hungarian carp juveniles.


Assuntos
Animais , Carpas/fisiologia , Dieta/veterinária , Ração Animal/análise , Tanques de Armazenamento/análise , Catecolaminas , Peixes , Nutrientes/análise , Aumento de Peso
7.
Diabetologia ; 55(6): 1847-55, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22411135

RESUMO

AIMS/HYPOTHESIS: Endothelium-derived factors are thought to be physiological modulators of large artery stiffness. The aim of the study was to investigate whether endothelial function could be a determinant of arterial stiffness in essential hypertensive patients, in relation with the concomitant presence of type 2 diabetes mellitus. METHODS: The study included 341 participants (84 hypertensive patients with and 175 without type 2 diabetes mellitus, 82 matched controls). Brachial artery endothelium-dependent flow-mediated dilation (FMD) was determined by high-resolution ultrasound and computerised edge detection system. Applanation tonometry was used to measure carotid-femoral pulse wave velocity (PWV). RESULTS: Hypertensive patients with diabetes had higher PWV (10.1 ± 2.3 m/s vs 8.6 ± 1.4 m/s, p < 0.001) and lower FMD (3.51 ± 2.07 vs 5.16 ± 2.96%, p < 0.001) than non-diabetic hypertensive patients, who showed impaired vascular function when compared with healthy participants (7.9 ± 1.6 m/s and 6.68 ± 3.67%). FMD was significantly and negatively correlated to PWV only in hypertensive diabetic patients (r = -0.456, p < 0.001), but not in hypertensive normoglycaemic patients (r = -0.088, p = 0.248) or in healthy participants (r = 0.008, p = 0.946). Multivariate analysis demonstrated that, in the diabetic group, FMD remained an independent predictor of PWV after adjustment for confounders (r(2) = 0.083, p = 0.003). Subgroup analysis performed in non-diabetic hypertensive patients revealed that neither obesity nor the metabolic syndrome affected the relationship between FMD and PWV. CONCLUSIONS/INTERPRETATION: Endothelial dysfunction is a determinant of aortic stiffness in hypertensive diabetic patients but not in hypertensive patients without diabetes. These results suggest that type 2 diabetes mellitus on top of hypertension might worsen arterial compliance by endothelium-related mechanisms.


Assuntos
Diabetes Mellitus Tipo 2/fisiopatologia , Endotélio Vascular/fisiopatologia , Hipertensão/fisiopatologia , Rigidez Vascular/fisiologia , Artéria Braquial/diagnóstico por imagem , Artéria Braquial/fisiopatologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico por imagem , Endotélio Vascular/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ultrassonografia
8.
J Ethnopharmacol ; 134(2): 501-3, 2011 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-21185931

RESUMO

AIM OF THE STUDY: Palicourea coriacea (Cham.) K Schum, is an endemic plant used in the Midwestern Region of Brazil, popularly known as "douradinha do campo" and "congonha do campo". This plant has been used in traditional medicine for several ailments, especially to treat kidney diseases. Since no formal studies on the biological activities and medicinal properties of the ethanolic extract of Palicourea coriacea (PCEE) have been carried out previously, the present study represents the first research into the efficacy of this plant as a diuretic agent employing laboratory rats as test animals. MATERIALS AND METHODS: For diuretic activity evaluation we assayed three doses of PCEE (20, 40 and 80mg/kg) and measurement of the urinary volume and electrolytes (Na(+), K(+)) concentration were taken. The acute oral toxicity of PCEE was investigated according to OECD Guideline 423. RESULTS: The oral administration of a single dose of PCEE significantly increased the urinary volume in 24h. Additionally, the treatment with PCEE increased, in a dose-dependent manner, the excretion of both, Na(+) and K(+). No sign of toxicity was observed in the animals. CONCLUSIONS: The present study confirmed the ethnopharmacological use of Palicourea coriacea as a diuretic agent in the experimental condition tested here. Additionally, this work supports the importance of the preservation of local knowledge as well as the conservation of Brazilian biodiversity.


Assuntos
Diuréticos/farmacologia , Extratos Vegetais/farmacologia , Potássio/urina , Rubiaceae , Sódio/urina , Micção/efeitos dos fármacos , Administração Oral , Animais , Brasil , Diuréticos/toxicidade , Relação Dose-Resposta a Droga , Masculino , Medicina Tradicional , Extratos Vegetais/toxicidade , Ratos , Ratos Wistar , Rubiaceae/toxicidade
9.
Curr Cancer Drug Targets ; 10(7): 772-81, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20578990

RESUMO

CXCR4 is a chemokine receptor implicated in the metastatic process. The CXCR4 ligand, CXCL12, was shown to bind also the CXCR7 receptor, a recently deorphanized chemokine receptor whose signalling pathway and function are still controversial. This study was conducted to determine patients clinic-pathological factors and outcome according to the expressions of CXCR4 and CXCR7 in renal cell carcinoma (RCC). CXCR4 and CXCR7 expression was evaluated in 223 RCC patients through immunohistochemistry; moreover CXCR4 and CXCR7 was detected in 49 others consecutive RCC patients trough RT- PCR. CXCR4 expression was low in 42/223 RCC (18.8%), intermediate in 71/223 (31.9%) and high in 110/223 (49.3%). CXCR7 expression was low in 44/223 RCC patients (19.8%), intermediate in 65/223 (29.1%) and high in 114/223 (51.1%). High CXCR4 and high CXCR7 expression predicted shorter disease free survival. In multivariate analysis, high CXCR4 expression (p= 0.0061), high CXCR7 (p= 0.0194) expression and the concomitant high expression of CXCR4 and CXCR7 (p= 0.0235) are independent prognosis factors. Through RT-PCR, CXCR4 was overexpressed in 36/49 and CXCR7 in 33/49 samples correlating with symptoms at diagnosis and lymph nodes status. So we can hypothesize that CXCR4 and CXCR7, singularly evaluated and in combination, are valuable prognostic factors in RCC patients.


Assuntos
Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/metabolismo , Neoplasias Renais/diagnóstico , Neoplasias Renais/metabolismo , Receptores CXCR4/metabolismo , Receptores CXCR/metabolismo , Idoso , Envelhecimento , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/secundário , Intervalo Livre de Doença , Feminino , Humanos , Imuno-Histoquímica , Rim/metabolismo , Rim/patologia , Neoplasias Renais/patologia , Metástase Linfática , Masculino , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Prognóstico , RNA Mensageiro/metabolismo , Receptores CXCR/genética , Receptores CXCR4/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sobrevida
10.
Diabetologia ; 50(10): 2156-63, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17579827

RESUMO

AIMS/HYPOTHESIS: Circulating progenitor cells participate in cardiovascular homeostasis. Depletion of the pool of endothelial progenitor cells (EPCs) is associated with increased cardiovascular risk. Furthermore, EPCs are reduced in the presence of classical risk factors for atherosclerotic disease, including diabetes mellitus. This study was designed to evaluate progenitor cell levels in volunteers with different degrees of glucose tolerance. METHODS: Cardiovascular parameters and the levels of circulating CD34(+) and CD34(+) kinase insert domain receptor (KDR)(+) cells were determined in 219 middle-aged individuals with no pre-diagnosed alterations in carbohydrate metabolism. Glucose tolerance was determined by fasting and 2 h post-challenge glucose levels, with IFG and IGT considered as pre-diabetic states. RESULTS: CD34(+) and CD34(+)KDR(+) cells were significantly reduced in individuals who were found to have diabetes mellitus, and were negatively correlated with both fasting and post-challenge glucose in the whole population. While only CD34(+) cells, but not CD34(+)KDR(+) cells, were significantly reduced in pre-diabetic individuals, post-challenge glucose was an independent determinant of the levels of both CD34(+) and CD34(+)KDR(+) cells. CONCLUSIONS/INTERPRETATION: Glucose tolerance was negatively associated with progenitor cell levels in middle-aged healthy individuals. Depletion of endothelial progenitors with increasing fasting and post-meal glucose may be one cause of the high incidence of cardiovascular damage in individuals with pre-diabetes.


Assuntos
Glicemia/metabolismo , Diabetes Mellitus/sangue , Teste de Tolerância a Glucose , Células-Tronco/fisiologia , Adulto , Análise de Variância , Antígenos CD34/sangue , Pressão Sanguínea , Índice de Massa Corporal , Colesterol/sangue , Diabetes Mellitus/fisiopatologia , Células Precursoras Eritroides/fisiologia , Feminino , Humanos , Lipoproteínas/sangue , Masculino , Pessoa de Meia-Idade
11.
Am J Med Genet A ; 134A(1): 88-94, 2005 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-15690352

RESUMO

Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG) features in a group of patients carrying aberrations of chromosome 18. Fourteen patients were recruited: five with an 18p deletion syndrome (18pDS); six with an 18q deletion syndrome (18qDS); two with trisomy 18p syndrome; and one with a 45,XY,t(17-18) (cen-q11.2) karyotype. Patients with 18pDS had neither epilepsy nor EEG anomalies; four patients with 18qDS had epilepsy with partial seizures occurring during infancy or early childhood. Partial seizures were also present in both patients with trisomy 18p. By contrast, mixed seizures were observed in the patient carrying a translocation between chromosomes 17 and 18. Our data and a re-evaluation of the literature suggest that epilepsy is infrequent in patients with 18pDS. Conversely, partial seizures and focal EEG anomalies may be observed in those with patients with 18qDS. Our observations suggest that the haplo-insufficiency of genes located on the long arm of chromosome 18 is more likely to be associated with epilepsy, than is haplo-insufficiency of genes located on the short arm. While further EEG/clinical investigations are needed to validate these observations, this study indicates a possible relationship between chromosome 18 genes and epilepsy.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 18/genética , Epilepsia/genética , Adolescente , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 17/genética , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Humanos , Cariotipagem , Masculino , Literatura de Revisão como Assunto , Síndrome , Translocação Genética , Trissomia
14.
G Ital Nefrol ; 20(5): 461-9, 2003.
Artigo em Italiano | MEDLINE | ID: mdl-14634961

RESUMO

BACKGROUND: The glycoprotein IIIa (beta3 integrin) is an integral part of two glicoprotein receptors of platelets and, respectively, endothelium and vascular smooth muscle cells. The gene encoding the GPIIIa, a receptor for fibrinogen, vWF and fibronectin, shows polymorphism (PlA1/PlA2); the PlA2 allele has been associated with myocardial infarction, stroke and cardiovascular disease. METHODS: Seven hundred and thirty-two subjects with type 1 diabetes and 605 subjects with type 2 were recruited. The prevalence of complications in type 1 diabetes was: microalbuminuria (uA) 17%, overt nephropathy (MA) 10%; background retinopathy (bR) 27%, proliferative retinopathy (pR) 22%; hypertension (HYP) 13%; coronary heart disease (CHD) 9%. The respective figures for type 2 diabetes were: uA 34%, MA 21%; bR 38%, pR 18%; HYP 80%; CHD 26%. A 247 bp fragment (exon 2) was amplified by PCR. For the detection of the point mutation CDGE (Constant Denaturing Gel Electrophoresis) after optimum denaturing conditions setting by DGGE (Denaturing Gradient GE) and/or RFLP by NciI digestion were employed. RESULTS: In type 1 diabetes, PlA1PlA1/PlA1PlA2 distribution was 77/23%. No differences were found among normoalbuminuric (nA: 76/24%), microalbuminuric (uA: 79/21%) and macroalbuminuric subjects (MA: 75/25%, p=0.79) as well as among subjects with no retinopathy (Ret-) (74/26%), bR (76/24%) and pR (78/22%, p=0.81), and between HYP- (78/22%) and HYP+ (72/28%, p=0.27) as well as CHD- (76/24%) and CHD+ (75/25%, p=0.72). Systolic blood pressure, HbA1c and retinopathy were independent predictors of nephropathy. No contribution of diastolic BP, sex, BMI, duration of diabetes and PlA2 allele was found for the risk of nephropathy. In type 2 diabetes, PlA1PlA1/PlA1PlA2/PlA2PlA2 distribution was 74.4/23.3/2.3%, with no differences foud among nA (73/25/2%), uA (75/23/2%) and MA (81/17/2%, p=0.66). No significant difference was detected among subjects with Ret- (74/22/4%), bR (77/22/1%) and pR (77/22/1%, p=0.62). Also, no differences were found between HYP- (81/17/2%) and HYP+ (74/24/2%, p=0.28) as well CHD- (76/22/2%) and CHD+ (74/24/2%, p=0.93). Systolic BP, HbA1c, presence of retinopathy, gender and BMI were independent predictors of nephropathy. Diastolic BP, duration of diabetes and PlA2 allele did not contribute to the risk of nephropathy. CONCLUSIONS: The PlA1/PlA2 polymorphism of the GPIIIa gene does not contribute to the development of nephropathy or retinopathy in type 1 and type 2 diabetes. Furthermore, no association was found between the PlA1/PlA2 polymorphism, hypertension, and coronary heart disease.


Assuntos
Antígenos de Plaquetas Humanas/genética , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Angiopatias Diabéticas/genética , Integrina beta3/genética , Polimorfismo Genético , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
15.
Am J Med Genet A ; 117A(3): 207-11, 2003 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-12599183

RESUMO

A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.


Assuntos
Anormalidades Múltiplas/genética , Osso e Ossos/anormalidades , Deficiência Intelectual/patologia , Translocação Genética , Anormalidades Múltiplas/patologia , Criança , Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 8/genética , Dedos/anormalidades , Humanos , Hibridização in Situ Fluorescente , Masculino
16.
Am J Med Genet A ; 116A(2): 192-9, 2003 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-12494443

RESUMO

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Displasia Ectodérmica/patologia , Anormalidades Múltiplas/patologia , Osso e Ossos/anormalidades , Encéfalo/anormalidades , Criança , Face/anormalidades , Saúde da Família , Feminino , Cabelo/anormalidades , Humanos , Hibridização in Situ Fluorescente , Masculino , Anormalidades da Pele , Crânio/anormalidades , Síndrome , Anormalidades Dentárias
18.
Gynecol Endocrinol ; 15(3): 165-9, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11447726

RESUMO

Duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Ten patients (4 male, 6 female) were detected with inv dup(15) syndrome. At clinical follow-up three girls showed pubertal disorders: two with central precocious puberty and one with ovarian dysgenesis. As has already been found in other patients with chromosome 15p abnormalities, we believe that gynecological disorder is an important clinical finding also in patients with inv dup(15) syndrome. We report the first data of a systematic endocrinological study on inv dup(15) syndrome which suggest that endocrine investigation in these patients is both warranted and useful. Moreover, our observations confirm that a karyotype analysis in patients in whom precocious puberty is associated with mental retardation is mandatory.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Puberdade Tardia/genética , Puberdade Precoce/genética , Adolescente , Criança , Anormalidades Congênitas/genética , Etinilestradiol/uso terapêutico , Feminino , Hormônio Foliculoestimulante/sangue , Duplicação Gênica , Hormônio Liberador de Gonadotropina , Hormônio do Crescimento Humano/sangue , Humanos , Hidrocortisona/sangue , Hormônio Luteinizante/sangue , Ovário/anormalidades , Prolactina/sangue , Puberdade Tardia/tratamento farmacológico , Puberdade Precoce/tratamento farmacológico , Hormônios Tireóideos/sangue , Tireotropina/sangue , Hormônio Liberador de Tireotropina , Pamoato de Triptorrelina/uso terapêutico
19.
Am J Med Genet ; 102(1): 29-35, 2001 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-11471169

RESUMO

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Cistos/patologia , Anormalidades do Olho/patologia , Anormalidades da Pele/patologia , Translocação Genética , Anormalidades Múltiplas/patologia , Bandeamento Cromossômico , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 5/genética , Análise Citogenética , Diagnóstico Diferencial , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Mutação , Pele/patologia , Pele/ultraestrutura
20.
Diabet Med ; 18(2): 116-20, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11251674

RESUMO

AIMS: To report on the reproducibility of iohexol glomerular filtration rate (GFR) estimation, to compare the plasma clearance of iohexol with that of[51Cr]EDTA and to evaluate the reliability of reduced sampling schedules in estimating GFR in Type 1 and Type 2 diabetes mellitus. METHODS: Agreement was assessed in 15 Type 1 and 26 Type 2 diabetics with creatinine ranging from 53 to 564 micromol/l. RESULTS: The regression between multiple-sample iohexol and[51Cr]EDTA clearances was 0.999 in Type 1 and 0.987 in Type 2 diabetes (P < 0.0001 for both). A seven-sample design and the three-sample approach by Brøchner-Mortensen were validated by comparison with the full-sample schedule in 87 patients (51 Type 1, 36 Type 2). Full-sample GFR was 80.3 +/- 43.8, seven-sample 79.5 +/- 43.9 (r = 0.990) and three-sample 79.8 +/- 45.2 ml.min-1.1.73 m-2 (r = 0.972). The coefficients of variation of GFR were 2.7 +/- 1.4% and 3.8 +/- 1.9% for the full-sample and the seven-sample approaches, respectively, and significantly higher for the three-sample design (6.9 +/- 3.4%, P = 0.0001). CONCLUSIONS: After iohexol injection, the Brøchner-Mortensen schedule does not provide an accurate estimate of GFR. The seven-sample approach gives acceptable errors and allows a good estimate of GFR throughout a wide range of renal function.


Assuntos
Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Mellitus Tipo 2/fisiopatologia , Taxa de Filtração Glomerular , Iohexol/farmacocinética , Adulto , Análise de Variância , Radioisótopos de Cromo/farmacocinética , Meios de Contraste , Ácido Edético/farmacocinética , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Taxa de Depuração Metabólica , Pessoa de Meia-Idade , Modelos Biológicos , Análise de Regressão , Reprodutibilidade dos Testes
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