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Article ; Online: Insatisfação com a imagem corporal e fatores associados em mulheres do sul do Brasil = Dissatisfaction with self-image and its related factors in southern Brazilian women

Poltronieri, Taiara Scopel / Tusset, Cintia / Gregoletto, Maria Luísa de Oliveira / Cremonese, Cleber

Ciência & Saúde, Vol 9, Iss 3, Pp 128-

2016 Volume 134

Abstract: Objetivo: Associar a insatisfação com a imagem corporal (IC) com fatores sócio demográficos, estado nutricional e transtornos alimentares em mulheres adultas do município de Ipê/RS. Materiais e Métodos: Estudo transversal, realizado com 187 mulheres ... ...

Abstract	Objetivo: Associar a insatisfação com a imagem corporal (IC) com fatores sócio demográficos, estado nutricional e transtornos alimentares em mulheres adultas do município de Ipê/RS. Materiais e Métodos: Estudo transversal, realizado com 187 mulheres entre 18 e 59 anos. Aplicou-se um questionário padronizado, composto por informações sócio demográficas, avaliação da insatisfação com a IC (Body Shape Questionnaire) e de sintomas para transtornos alimentares (Questionário EAT-26). Além disso, foram aferidos peso e estatura para o cálculo do Índice de Massa Corporal (IMC). Na análise estatística, frequências foram realizadas, além de teste de tendência linear, qui-quadrado e regressão de Poisson para identificar associações entre o desfecho e fatores de exposição. Foi adotando um nível de significância de 5%. Resultados: Do total, 45,9% das mulheres apresentaram insatisfação com a IC, 40% estavam com excesso de peso, e 17,1% apresentaram sintomas para transtorno alimentar. Estado nutricional e presença de sintomas para transtorno alimentar mostraram-se associadas com insatisfação da IC. Obesas apresentaram 49% maior probabilidade de apresentar o desfecho em relação às eutróficas. Em relação aos sintomas para transtorno alimentar, mulheres com rastreamento positivo mostraram 61% maior probabilidade de ter insatisfação com seu corpo em comparação às mulheres que apresentaram rastreamento negativo para esta variável. Não foram encontradas associações estatisticamente significativas entre variáveis sócio demográficas insatisfação com a IC. Conclusão: Os resultados do estudo sugerem uma elevada prevalência de insatisfação com a IC, independente da faixa etária e do local de moradia. Mulheres com excesso de peso e com sintomas de transtorno alimentar têm maior probabilidade de ter algum grau de insatisfação com a IC
Keywords	IMAGEM CORPORAL ; TRANSTORNOS ALIMENTARES ; HÁBITOS ALIMENTARES ; PSICOLOGIA FISIOLÓGICA ; Public aspects of medicine ; RA1-1270
Language	Portuguese
Publishing date	2016-01-01T00:00:00Z
Publisher	Editora da Pontifícia Universidade Católica do Rio Grande do Sul - EDIPUCRS
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Insatisfação com a imagem corporal e fatores associados em mulheres do sul do Brasil = Dissatisfaction with self-image and its related factors in southern Brazilian women

Poltronieri, Taiara Scopel / Tusset, Cintia / Gregoletto, Maria Luísa de Oliveira / Cremonese, Cleber

Ciência & Saúde, Vol 9, Iss 3, Pp 128-

2016 Volume 134

Abstract	Objetivo: Associar a insatisfação com a imagem corporal (IC) com fatores sócio demográficos, estado nutricional e transtornos alimentares em mulheres adultas do município de Ipê/RS. Materiais e Métodos: Estudo transversal, realizado com 187 mulheres entre 18 e 59 anos. Aplicou-se um questionário padronizado, composto por informações sócio demográficas, avaliação da insatisfação com a IC (Body Shape Questionnaire) e de sintomas para transtornos alimentares (Questionário EAT-26). Além disso, foram aferidos peso e estatura para o cálculo do Índice de Massa Corporal (IMC). Na análise estatística, frequências foram realizadas, além de teste de tendência linear, qui-quadrado e regressão de Poisson para identificar associações entre o desfecho e fatores de exposição. Foi adotando um nível de significância de 5%. Resultados: Do total, 45,9% das mulheres apresentaram insatisfação com a IC, 40% estavam com excesso de peso, e 17,1% apresentaram sintomas para transtorno alimentar. Estado nutricional e presença de sintomas para transtorno alimentar mostraram-se associadas com insatisfação da IC. Obesas apresentaram 49% maior probabilidade de apresentar o desfecho em relação às eutróficas. Em relação aos sintomas para transtorno alimentar, mulheres com rastreamento positivo mostraram 61% maior probabilidade de ter insatisfação com seu corpo em comparação às mulheres que apresentaram rastreamento negativo para esta variável. Não foram encontradas associações estatisticamente significativas entre variáveis sócio demográficas insatisfação com a IC. Conclusão: Os resultados do estudo sugerem uma elevada prevalência de insatisfação com a IC, independente da faixa etária e do local de moradia. Mulheres com excesso de peso e com sintomas de transtorno alimentar têm maior probabilidade de ter algum grau de insatisfação com a IC
Keywords	imagem corporal ; transtornos alimentares ; hábitos alimentares ; psicologia fisiológica ; Public aspects of medicine ; RA1-1270
Language	Portuguese
Publishing date	2016-01-01T00:00:00Z
Publisher	Editora da Pontifícia Universidade Católica do Rio Grande do Sul - EDIPUCRS
Document type	Article ; Online
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Article ; Online: Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.

Silveira, Leticia Gontijo / Tusset, Cintia / Latronico, Ana Claudia

Brain research

2010 Volume 1364, Page(s) 72–80

Abstract: The involvement of kisspeptin and neurokinin in B pathways in the reproductive axis was first suspected by linkage analysis in consanguineous families with isolated hypogonadotropic hypogonadism (IHH). Since then, several loss-of-function mutations ... ...

Abstract	The involvement of kisspeptin and neurokinin in B pathways in the reproductive axis was first suspected by linkage analysis in consanguineous families with isolated hypogonadotropic hypogonadism (IHH). Since then, several loss-of-function mutations affecting the kisspeptin receptor and neurokinin B and its receptor were associated with sporadic and familial IHH without olfactory abnormalities or other associated developmental alterations. Clinical manifestations were indistinguishable in individuals with mutations affecting these pathways. Micropenis and cryptorchidism were common findings among male patients. Response to acute GnRH stimulation varied from blunted to normal, and many affected males and females were successfully treated for infertility with either exogenous gonadotropins or long term pulsatile GnRH infusion. More recently, rare activating mutations of the kisspeptin and its receptor were identified in children with idiopathic central precocious puberty, supporting the crucial role of this system in the human pubertal onset. Kisspeptin is a potent excitatory regulator of the GnRH secretion, whereas the role of neurokinin B in the neuroendocrine control of the reproductive axis is still poorly understood. Interestingly, kisspeptin and neurokinin B are coexpressed in the arcuate nucleus in the mammalian hypothalamus, suggesting that these systems are closely related and potential partners of the regulation of the reproductive axis.
MeSH term(s)	Amino Acid Sequence ; Animals ; Female ; Gonads/abnormalities ; Humans ; Kisspeptins ; Male ; Molecular Sequence Data ; Neurokinin B/genetics ; Neurokinin B/physiology ; Puberty, Precocious/genetics ; Receptors, G-Protein-Coupled/genetics ; Receptors, G-Protein-Coupled/physiology ; Receptors, Kisspeptin-1 ; Reproduction/genetics ; Reproduction/physiology ; Signal Transduction/genetics ; Signal Transduction/physiology ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/physiology
Chemical Substances	KISS1 protein, human ; KISS1R protein, human ; Kisspeptins ; Receptors, G-Protein-Coupled ; Receptors, Kisspeptin-1 ; Tumor Suppressor Proteins ; Neurokinin B (86933-75-7)
Language	English
Publishing date	2010-12-10
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	1200-2
ISSN	1872-6240 ; 0006-8993
ISSN (online)	1872-6240
ISSN	0006-8993
DOI	10.1016/j.brainres.2010.08.087
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Article ; Online: New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.

Teles, Milena Gurgel / Silveira, Leticia Ferreira Gontijo / Tusset, Cintia / Latronico, Ana Claudia

Molecular and cellular endocrinology

2011 Volume 346, Issue 1-2, Page(s) 84–90

Abstract: Human puberty is triggered by the reemergence of GnRH pulsatile secretion with progressive activation of the gonadal function. A number of genes have been identified in the complex regulatory neuroendocrine network that controls puberty initiation. KISS1 ...

Abstract	Human puberty is triggered by the reemergence of GnRH pulsatile secretion with progressive activation of the gonadal function. A number of genes have been identified in the complex regulatory neuroendocrine network that controls puberty initiation. KISS1 and KISS1R genes, which encode kisspeptin and its cognate receptor, respectively, are considered crucial factors for acquisition of normal reproductive function. Recently, rare missense mutations and single nucleotide polymorphisms (SNPs) of the kisspeptin system were associated with puberty onset. Two gain-of-function mutations of the KISS1 and KISS1R genes were implicated in the pathogenesis of GnRH-dependent precocious puberty, previously considered idiopathic. These discoveries have yielded significant insights into the physiology and pathophysiology of this important life transition time. Here, we review the current molecular defects that are implicated in human GnRH-dependent precocious puberty.
MeSH term(s)	Animals ; Gonadotropin-Releasing Hormone/genetics ; Humans ; Kisspeptins/genetics ; Mutation ; Puberty, Precocious/genetics
Chemical Substances	Kisspeptins ; Gonadotropin-Releasing Hormone (33515-09-2)
Language	English
Publishing date	2011-10-22
Publishing country	Ireland
Document type	Journal Article ; Review
ZDB-ID	187438-x
ISSN	1872-8057 ; 0303-7207
ISSN (online)	1872-8057
ISSN	0303-7207
DOI	10.1016/j.mce.2011.05.019
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Article: New genetic factors implicated in human GnRH-dependent precocious puberty: The role of kisspeptin system

Teles, Milena Gurgel / Silveira, Leticia Ferreira Gontijo / Tusset, Cintia / Latronico, Ana Claudia

Molecular and cellular endocrinology. 2011 Oct. 22, v. 346, no. 1-2

2011

Abstract	Human puberty is triggered by the reemergence of GnRH pulsatile secretion with progressive activation of the gonadal function. A number of genes have been identified in the complex regulatory neuroendocrine network that controls puberty initiation. KISS1 and KISS1R genes, which encode kisspeptin and its cognate receptor, respectively, are considered crucial factors for acquisition of normal reproductive function. Recently, rare missense mutations and single nucleotide polymorphisms (SNPs) of the kisspeptin system were associated with puberty onset. Two gain-of-function mutations of the KISS1 and KISS1R genes were implicated in the pathogenesis of GnRH-dependent precocious puberty, previously considered idiopathic. These discoveries have yielded significant insights into the physiology and pathophysiology of this important life transition time. Here, we review the current molecular defects that are implicated in human GnRH-dependent precocious puberty.
Keywords	genes ; gonadotropin-releasing hormone ; humans ; missense mutation ; pathogenesis ; pathophysiology ; puberty ; secretion ; single nucleotide polymorphism
Language	English
Dates of publication	2011-1022
Size	p. 84-90.
Publishing place	Elsevier Ireland Ltd
Document type	Article
ZDB-ID	187438-x
ISSN	1872-8057 ; 0303-7207
ISSN (online)	1872-8057
ISSN	0303-7207
DOI	10.1016/j.mce.2011.05.019
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Article ; Online: Aspectos clínicos e moleculares do hipogonadismo hipogonadotrófico isolado congênito.

Tusset, Cintia / Trarbach, Ericka B / Silveira, Letícia Ferreira Gontijo / Beneduzzi, Daiane / Montenegro, Luciana / Latronico, Ana Claudia

Arquivos brasileiros de endocrinologia e metabologia

2012 Volume 55, Issue 8, Page(s) 501–511

Abstract: Congenital isolated hypogonadotropic hypogonadism (IHH) is characterized by partial or complete lack of pubertal development due to defects in migration, synthesis, secretion or action of gonadotropin-releasing hormone (GnRH). Laboratory diagnosis is ... ...

Title translation	Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism.
Abstract	Congenital isolated hypogonadotropic hypogonadism (IHH) is characterized by partial or complete lack of pubertal development due to defects in migration, synthesis, secretion or action of gonadotropin-releasing hormone (GnRH). Laboratory diagnosis is based on the presence of low levels of sex steroids, associated with low or inappropriately normal levels of pituitary gonadotropins (LH and FSH). Secretion of other pituitary hormones is normal, as well magnetic resonance imaging of the hypothalamohypophyseal tract, which shows absence of an anatomical defects. When IHH is associated with olfactory abnormalities (anosmia or hyposmia), it characterizes Kallmann syndrome. A growing list of genes is involved in the etiology of IHH, suggesting the heterogeneity and complexity of the genetic bases of this condition. Defects in olfactory and GnRH neuron migration are the etiopathogenic basis of Kallmann syndrome. Mutations in KAL1, FGFR1/FGF8, PROK2/PROKR2, NELF, CHD7, HS6ST1 and WDR11 are associated with defects in neuronal migration, leading to Kallmann syndrome. Notably, defects in FGFR1, FGF8, PROKR2, CHD7 and WDR11 are also associated with IHH, without olfactory abnormalities (normosmic IHH), although in a lower frequency. Mutations in KISS1R, TAC3/TACR3 and GNRH1/GNRHR are described exclusively in patients with normosmic IHH. In this paper, we reviewed the clinical, hormonal and genetic aspects of IHH.
MeSH term(s)	Cell Movement/genetics ; Gonadotropin-Releasing Hormone/genetics ; Gonadotropin-Releasing Hormone/metabolism ; Humans ; Hypogonadism/congenital ; Hypogonadism/genetics ; Kallmann Syndrome/genetics ; Mutation/genetics ; Neurons/metabolism
Chemical Substances	Gonadotropin-Releasing Hormone (33515-09-2)
Language	Portuguese
Publishing date	2012-01-03
Publishing country	Brazil
Document type	Journal Article ; Review
ZDB-ID	603919-4
ISSN	1677-9487 ; 0004-2730
ISSN (online)	1677-9487
ISSN	0004-2730
DOI	10.1590/s0004-27302011000800002
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Article: Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome

Montenegro, Luciana Ribeiro / Silveira, Leticia F.G / Tusset, Cintia / de Castro, Margaret / Versiani, Beatriz R / Latronico, Ana Claudia / Mendonca, Berenice Bilharinho / Trarbach, Ericka B

Fertility and sterility. 2013 Sept., v. 100, no. 3

2013

Abstract: OBJECTIVE: To investigate the role of KAL1 abnormalities in Brazilian patients with Kallmann syndrome. DESIGN: In vitro experiments. SETTING: Academic medical center. PATIENT(S): One hundred fifteen Brazilian patients (98 men) with Kallmann syndrome. ... ...

Abstract	OBJECTIVE: To investigate the role of KAL1 abnormalities in Brazilian patients with Kallmann syndrome. DESIGN: In vitro experiments. SETTING: Academic medical center. PATIENT(S): One hundred fifteen Brazilian patients (98 men) with Kallmann syndrome. INTERVENTION(S): Peripheral blood leukocytes were used to obtain DNA. MAIN OUTCOME MEASURE(S): Direct sequencing and multiplex ligation-dependent probe amplification were used to identify KAL1 abnormalities. RESULT(S): We identified four KAL1 mutations (p.Met1?, p.Ala33Glyfs, p.Arg257, and p.Trp462) and two multiple exon deletions (exons 1–2 and 3–14) in six new male patients. Overall, 17 KAL1 defects (14.8%) were identified in the entire cohort of patients with Kallmann syndrome, including previously studied cases. KAL1-mutated patients presented with a more severe reproductive and nonreproductive phenotype (synkinesia, renal malformations, cryptorchidism, and anatomic olfactory abnormalities) in comparison with patients without KAL1 mutations. Intragenic deletions were one of the most often encountered defects (29.4%). These deletions can be missed by polymerase chain reaction (PCR) due to Yq11.2 KAL1 pseudogene (KALP) spurious amplification. CONCLUSION(S): These results indicate that intragenic multiexon deletions are one of the most frequent KAL1 abnormalities, which can be more accurately detected by multiplex ligation-dependent probe amplification. In addition, KAL1 sequencing results should be interpreted with caution, and stringency conditions of the PCR reaction should be adjusted to avoid pseudogene amplification.
Keywords	DNA ; abnormal development ; cryptorchidism ; exons ; in vitro studies ; leukocytes ; men ; mutation ; patients ; phenotype ; polymerase chain reaction ; pseudogenes
Language	English
Dates of publication	2013-09
Size	p. 854-859.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	80133-1
ISSN	1556-5653 ; 0015-0282
ISSN (online)	1556-5653
ISSN	0015-0282
DOI	10.1016/j.fertnstert.2013.04.045
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Article ; Online: Reduced serum concentrations of brain-derived neurotrophic factor (BDNF) in transsexual Brazilian men.

Fontanari, Anna Martha Vaitses / Costa, Angelo Brandelli / Aguiar, Bianca / Tusset, Cíntia / Andreazza, Tahiana / Schneider, Maiko / da Rosa, Eduarda Dias / Soll, Bianca Machado Borba / Schwarz, Karine / da Silva, Dhiordan Cardoso / Borba, André Oliveira / Mueller, Andressa / Massuda, Raffael / Lobato, Maria Inês Rodrigues

Neuroscience letters

2016 Volume 630, Page(s) 109–113

Abstract: Serum BDNF levels are significantly decreased in transsexual Brazilian women when compared to cis-sexual men. Since transsexual men are also exposed to chronic social stress and have a high prevalence of associated psychopathologies, it is plausible to ... ...

Abstract	Serum BDNF levels are significantly decreased in transsexual Brazilian women when compared to cis-sexual men. Since transsexual men are also exposed to chronic social stress and have a high prevalence of associated psychopathologies, it is plausible to inquire if BDNF serum levels are altered in transsexual men as well. Therefore, our objective was to evaluate differences in BDNF serum level of transsexual men when compared to cis-sexual men and women. Our sample comprises 27 transsexual men, 31 cis-sexual women and 30 cis-sexual men recruited between 2011 and 2015. We observed that BDNF serum concentration is decreased in transsexual men comparing to cis-sexual men and women. Cross-sex hormone treatment, chronic social stress or long-term gender dysphoria (GD) could explain the variation found in BDNF serum levels.
MeSH term(s)	Adult ; Brain-Derived Neurotrophic Factor/blood ; Brazil ; Female ; Humans ; Male ; Sex Factors ; Transsexualism/blood
Chemical Substances	Brain-Derived Neurotrophic Factor ; BDNF protein, human (7171WSG8A2)
Language	English
Publishing date	2016-07-26
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	194929-9
ISSN	1872-7972 ; 0304-3940
ISSN (online)	1872-7972
ISSN	0304-3940
DOI	10.1016/j.neulet.2016.07.034
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Article ; Online: Preditores clínicos, laboratoriais e radiográficos para infecção por Bordetella pertussis.

Bellettini, Camila Vieira / de Oliveira, Andressa Welter / Tusset, Cintia / Baethgen, Ludmila Fiorenzano / Amantéa, Sérgio Luís / Motta, Fabrizio / Gasparotto, Aline / Andreolla, Huander Felipe / Pasqualotto, Alessandro C

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

2014 Volume 32, Issue 4, Page(s) 292–298

Abstract: Objective: To identify clinical, laboratorial and radiographic predictors for Bordetella pertussis infection.: Methods: This was a retrospective study, which analyzed medical records of all patients submitted to a molecular diagnosis (qPCR) for B. ... ...

Title translation	Clinical, laboratorial and radiographic predictors of Bordetella pertussis infection.
Abstract	Objective: To identify clinical, laboratorial and radiographic predictors for Bordetella pertussis infection. Methods: This was a retrospective study, which analyzed medical records of all patients submitted to a molecular diagnosis (qPCR) for B. pertussis from September 2011 to January 2013. Clinical and laboratorial data were reviewed, including information about age, sex, signs/symptoms, length of hospitalization, blood cell counts, imaging findings, coinfection with other respiratory pathogens and clinical outcome. Results: 222 cases were revised. Of these, 72.5% had proven pertussis, and 60.9% were under 1 year old. In patients aging up to six months, independent predictors for B. pertussis infection were cyanosis (OR 8.0, CI 95% 1.8-36.3; p=0.007) and lymphocyte count >10(4)/μL (OR 10.0, CI 95% 1.8-54.5; p=0.008). No independent predictors of B. pertussis infection could be determined for patients older than six months. Co-infection was found in 21.4% of patients, of which 72.7% were up to six months of age. Adenovirus was the most common agent (40.9%). In these patients, we were not able to identify any clinical features to detect patients presenting with a respiratory co-infection, even though longer hospital stay was observed in patients with co-infections (12 vs. 6 days; p=0.009). Conclusions: Cyanosis and lymphocytosis are independent predictors for pertussis in children up to 6 months old.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Clinical Laboratory Techniques ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Predictive Value of Tests ; Radiography ; Retrospective Studies ; Whooping Cough/diagnosis ; Young Adult
Language	Portuguese
Publishing date	2014-12
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	2560228-7
ISSN	1984-0462 ; 0103-0582
ISSN (online)	1984-0462
ISSN	0103-0582
DOI	10.1016/j.rpped.2014.06.001
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Article ; Online: Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.

Montenegro, Luciana Ribeiro / Silveira, Leticia F G / Tusset, Cintia / de Castro, Margaret / Versiani, Beatriz R / Latronico, Ana Claudia / Mendonca, Berenice Bilharinho / Trarbach, Ericka B

Fertility and sterility

2013 Volume 100, Issue 3, Page(s) 854–859

Abstract: Objective: To investigate the role of KAL1 abnormalities in Brazilian patients with Kallmann syndrome.: Design: In vitro experiments.: Setting: Academic medical center.: Patient(s): One hundred fifteen Brazilian patients (98 men) with Kallmann ... ...

Abstract	Objective: To investigate the role of KAL1 abnormalities in Brazilian patients with Kallmann syndrome. Design: In vitro experiments. Setting: Academic medical center. Patient(s): One hundred fifteen Brazilian patients (98 men) with Kallmann syndrome. Intervention(s): Peripheral blood leukocytes were used to obtain DNA. Main outcome measure(s): Direct sequencing and multiplex ligation-dependent probe amplification were used to identify KAL1 abnormalities. Result(s): We identified four KAL1 mutations (p.Met1?, p.Ala33Glyfs, p.Arg257, and p.Trp462) and two multiple exon deletions (exons 1-2 and 3-14) in six new male patients. Overall, 17 KAL1 defects (14.8%) were identified in the entire cohort of patients with Kallmann syndrome, including previously studied cases. KAL1-mutated patients presented with a more severe reproductive and nonreproductive phenotype (synkinesia, renal malformations, cryptorchidism, and anatomic olfactory abnormalities) in comparison with patients without KAL1 mutations. Intragenic deletions were one of the most often encountered defects (29.4%). These deletions can be missed by polymerase chain reaction (PCR) due to Yq11.2 KAL1 pseudogene (KALP) spurious amplification. Conclusion(s): These results indicate that intragenic multiexon deletions are one of the most frequent KAL1 abnormalities, which can be more accurately detected by multiplex ligation-dependent probe amplification. In addition, KAL1 sequencing results should be interpreted with caution, and stringency conditions of the PCR reaction should be adjusted to avoid pseudogene amplification.
MeSH term(s)	Adult ; Automation ; Base Sequence ; DNA Mutational Analysis/instrumentation ; DNA Mutational Analysis/methods ; Extracellular Matrix Proteins/genetics ; Female ; Gene Frequency ; High-Throughput Nucleotide Sequencing/instrumentation ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Kallmann Syndrome/diagnosis ; Kallmann Syndrome/epidemiology ; Kallmann Syndrome/genetics ; Male ; Multiplex Polymerase Chain Reaction ; Mutation/genetics ; Mutation/physiology ; Nerve Tissue Proteins/genetics ; Prevalence ; Pseudogenes/genetics
Chemical Substances	Extracellular Matrix Proteins ; KAL1 protein, human ; Nerve Tissue Proteins
Language	English
Publishing date	2013-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80133-1
ISSN	1556-5653 ; 0015-0282
ISSN (online)	1556-5653
ISSN	0015-0282
DOI	10.1016/j.fertnstert.2013.04.045
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