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[PMID]:27778640
[Au] Autor:Legro RS; Kunselman AR; Stetter CM; Gnatuk CL; Estes SJ; Brindle E; Vesper HW; Botelho JC; Lee PA; Dodson WC
[Ad] Endereço:Departments of Obstetrics and Gynecology.
[Ti] Título:Normal Pubertal Development in Daughters of Women With PCOS: A Controlled Study.
[So] Source:J Clin Endocrinol Metab;102(1):122-131, 2017 Jan 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Daughters of women with polycystic ovary syndrome (PCOS) are thought to be at increased risk for developing stigmata of the syndrome, but the ontogeny during puberty is uncertain. Objective: We phenotyped daughters (n = 76) of mothers with PCOS and daughters (n = 80) from control mothers for reproductive and metabolic parameters characteristic of PCOS. Design, Setting, and Participants: We performed a matched case/control study at Penn State Hershey Medical Center that included non-Hispanic, white girls 4 to 17 years old. Intervention: We obtained birth history, biometric, ovarian ultrasounds, whole-body dual-energy X-ray absorptiometry scan for body composition, 2-hour glucose challenged salivary insulin levels, and two timed urinary collections (12 hours overnight and 3 hours in the morning) for gonadotropins and sex steroids. Main Outcome Measures: We measured integrated urinary levels of adrenal (dehydroepiandrosterone sulfate) and ovarian [testosterone (TT)] steroids. Other endpoints included integrated salivary insulin levels and urinary luteinizing hormone levels. Results: There were no differences in detection rates or mean levels for gonadotropins and sex steroids in timed urinary collections between PCOS daughters and control daughters, nor were there differences in integrated salivary insulin levels. Results showed that 69% of Tanner 4/5 PCOS daughters vs 31% of control daughters had hirsutism defined as a Ferriman-Gallwey score >8 (P = 0.04). There were no differences in body composition as determined by dual-energy X-ray absorptiometry between groups in the three major body contents (i.e., bone, lean body mass, and fat) or in ovarian volume between groups. Conclusions: Matched for pubertal stage, PCOS daughters have similar levels of urinary androgens and gonadotropins as well as glucose-challenged salivary insulin levels.
[Mh] Termos MeSH primário: Filho de Pais Incapacitados/estatística & dados numéricos
Insulina/metabolismo
Síndrome do Ovário Policístico/fisiopatologia
Puberdade/metabolismo
Maturidade Sexual/fisiologia
[Mh] Termos MeSH secundário: Biomarcadores/análise
Composição Corporal
Estudos de Casos e Controles
Criança
Feminino
Seguimentos
Teste de Tolerância a Glucose
Seres Humanos
Masculino
Núcleo Familiar
Prognóstico
Testosterona/sangue
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Insulin); 3XMK78S47O (Testosterone)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-2707


  2 / 5107 MEDLINE  
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[PMID]:27777265
[Au] Autor:Gellatly C; Petrie M
[Ad] Endereço:Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK.
[Ti] Título:Prenatal sex selection and female infant mortality are more common in India after firstborn and second-born daughters.
[So] Source:J Epidemiol Community Health;71(3):269-274, 2017 Mar.
[Is] ISSN:1470-2738
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The Indian sex ratio has become highly male-biased in recent decades. This may be attributed to prenatal sex selection (PSS) and excess female infant mortality. However, the question of whether these factors are related has not been adequately studied. Here we examine whether increased use of PSS may offset excess female infant mortality, by reducing the number of 'unwanted' daughters being born. METHODS: We analyse the National Family Health Survey (NHFS) data sets for India, which contain nationally representative samples of birth histories for women aged 15-49, interviewed in 1992-1993, 1998-1999 and 2005-2006. We test for missing female births at the second and third birth order, by analysis of the frequencies of sibling sex combinations, and examine the mortality differential between male and female infants, controlling for household wealth and sex(es) of older siblings. RESULTS: PSS was used most in wealthier households at the second and third birth order, when the firstborn, or firstborn and second-born, siblings were female. Having preceding female siblings was a significant risk factor for female infant mortality, but was not correlated with household wealth. CONCLUSIONS: PSS and female infant mortality increase with the presence of older female siblings, yet we find no evidence that increasing use of PSS prevents female infant mortality, because PSS and the proportion of female infant mortality attributable to having older sisters increased over the study period. Increased pressure on higher birth order females caused by the trend towards smaller family sizes may explain this.
[Mh] Termos MeSH primário: Mortalidade Infantil
Núcleo Familiar
Pré-Seleção do Sexo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Ordem de Nascimento
Feminino
Seres Humanos
Índia
Lactente
Recém-Nascido
Meia-Idade
Fatores de Risco
Razão de Masculinidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.1136/jech-2016-207489


  3 / 5107 MEDLINE  
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[PMID]:28740197
[Au] Autor:Lijtmaer R
[Ad] Endereço:, 88 West Ridgewood Ave, Ridgewood, NJ, 07450, USA.
[Ti] Título:UNTOLD STORIES AND THE POWER OF SILENCE IN THE INTERGENERATIONAL TRANSMISSION OF SOCIAL TRAUMA.
[So] Source:Am J Psychoanal;77(3):274-284, 2017 Sep.
[Is] ISSN:1573-6741
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:There are intergenerational secrets and unprocessed experiences that very often don't have a voice or an image associated with them but loom in our minds nonetheless. What haunts are not the dead, but the gaps left within us by the secrets of others. This paper will look at the conflict that occurs when unspoken events and memories of one generation haunt the next one. It is my contention that the second-generation survivors of trauma can be deeply affected by something that did not directly happen to them. Utilizing my own personal narrative I will examine how being the daughter of a woman who escaped the Holocaust, and her silence about those events affected my personal development and later my work with patients. I will also explore the unspoken secret that a patient's mother kept from her, paralleling the writer's mother's secret.
[Mh] Termos MeSH primário: Holocausto/psicologia
Relação entre Gerações
Psicanálise
Sobreviventes/psicologia
[Mh] Termos MeSH secundário: Morte
Feminino
Seres Humanos
Mães
Núcleo Familiar
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171214
[Lr] Data última revisão:
171214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.1057/s11231-017-9102-9


  4 / 5107 MEDLINE  
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[PMID]:29049588
[Au] Autor:Gopal S
[Ad] Endereço:Malawi Cancer Consortium.
[Ti] Título:Global Health: What's in It for Us?
[So] Source:JAMA;318(14):1325-1326, 2017 Oct 10.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Saúde Global
Missões Médicas Oficiais
[Mh] Termos MeSH secundário: Pesquisa Biomédica
Feminino
Seres Humanos
Cooperação Internacional
Malária Cerebral
Malaui
Núcleo Familiar
[Pt] Tipo de publicação:JOURNAL ARTICLE; PERSONAL NARRATIVES
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171104
[Lr] Data última revisão:
171104
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171020
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.13203


  5 / 5107 MEDLINE  
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[PMID]:28847979
[Au] Autor:Weise KL; Okun AL; Carter BS; Christian CW; COMMITTEE ON BIOETHICS; SECTION ON HOSPICE AND PALLIATIVE MEDICINE; COMMITTEE ON CHILD ABUSE AND NEGLECT
[Ti] Título:Guidance on Forgoing Life-Sustaining Medical Treatment.
[So] Source:Pediatrics;140(3), 2017 Sep.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pediatric health care is practiced with the goal of promoting the best interests of the child. Treatment generally is rendered under a presumption in favor of sustaining life. However, in some circumstances, the balance of benefits and burdens to the child leads to an assessment that forgoing life-sustaining medical treatment (LSMT) is ethically supportable or advisable. Parents are given wide latitude in decision-making concerning end-of-life care for their children in most situations. Collaborative decision-making around LSMT is improved by thorough communication among all stakeholders, including medical staff, the family, and the patient, when possible, throughout the evolving course of the patient's illness. Clear communication of overall goals of care is advised to promote agreed-on plans, including resuscitation status. Perceived disagreement among the team of professionals may be stressful to families. At the same time, understanding the range of professional opinions behind treatment recommendations is critical to informing family decision-making. Input from specialists in palliative care, ethics, pastoral care, and other disciplines enhances support for families and medical staff when decisions to forgo LSMT are being considered. Understanding specific applicability of institutional, regional, state, and national regulations related to forgoing LSMT is important to practice ethically within existing legal frameworks. This guidance represents an update of the 1994 statement from the American Academy of Pediatrics on forgoing LSMT.
[Mh] Termos MeSH primário: Tomada de Decisões
Cuidados para Prolongar a Vida
Pais/psicologia
Relações Profissional-Família
Suspensão de Tratamento
[Mh] Termos MeSH secundário: Criança
Comunicação
Seres Humanos
Núcleo Familiar/psicologia
Planejamento de Assistência ao Paciente
Equipe de Assistência ao Paciente
Papel do Médico
[Pt] Tipo de publicação:JOURNAL ARTICLE; PRACTICE GUIDELINE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE


  6 / 5107 MEDLINE  
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[PMID]:28846694
[Au] Autor:Skov L; Schierup MH; Danish Pan Genome Consortium
[Ad] Endereço:Bioinformatics Research Centre, Aarhus University, Aarhus C., Denmark.
[Ti] Título:Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion.
[So] Source:PLoS Genet;13(8):e1006834, 2017 Aug.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The human Y-chromosome does not recombine across its male-specific part and is therefore an excellent marker of human migrations. It also plays an important role in male fertility. However, its evolution is difficult to fully understand because of repetitive sequences, inverted repeats and the potentially large role of gene conversion. Here we perform an evolutionary analysis of 62 Y-chromosomes of Danish descent sequenced using a wide range of library insert sizes and high coverage, thus allowing large regions of these chromosomes to be well assembled. These include 17 father-son pairs, which we use to validate variation calling. Using a recent method that can integrate variants based on both mapping and de novo assembly, we genotype 10898 SNVs and 2903 indels (max length of 27241 bp) in our sample and show by father-son concordance and experimental validation that the non-recurrent SNP and indel variation on the Y chromosome tree is called very accurately. This includes variation called in a 0.9 Mb centromeric heterochromatic region, which is by far the most variable in the Y chromosome. Among the variation is also longer sequence-stretches not present in the reference genome but shared with the chimpanzee Y chromosome. We analyzed 2.7 Mb of large inverted repeats (palindromes) for variation patterns among the two palindrome arms and identified 603 mutation and 416 gene conversions events. We find clear evidence for GC-biased gene conversion in the palindromes (and a balancing AT mutation bias), but irrespective of this, also a strong bias towards gene conversion towards the ancestral state, suggesting that palindromic gene conversion may alleviate Muller's ratchet. Finally, we also find a large number of large-scale gene duplications and deletions in the palindromic regions (at least 24) and find that such events can consist of complex combinations of simultaneous insertions and deletions of long stretches of the Y chromosome.
[Mh] Termos MeSH primário: Cromossomos Humanos Y/genética
Evolução Molecular
Heterocromatina/genética
Mutação INDEL/genética
[Mh] Termos MeSH secundário: Dinamarca
Pai
Conversão Gênica/genética
Seres Humanos
Infertilidade Masculina/genética
Infertilidade Masculina/patologia
Sequências Repetidas Invertidas/genética
Masculino
Núcleo Familiar
Filogenia
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heterochromatin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170829
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006834


  7 / 5107 MEDLINE  
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[PMID]:28805197
[Au] Autor:Witusik A
[Ad] Endereço:Department of Psychology, Institute of Pedagogical Sciences, Jan Kochanowski University in Kielce, Piotrków Trybunalski Branch.
[Ti] Título:Family of a person suffering from schizophrenia in the context of a qualitative approach to understanding the family as a system.
[So] Source:Pol Merkur Lekarski;43(253):22-25, 2017 Jul 21.
[Is] ISSN:1426-9686
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Qualitative analysis of the family system including a person suffering from schizophrenia is an underestimated research paradigm in modern psychiatry, clinical psychology and psychotherapy. This method is important both from the cognitive point of view and for evaluation of the effectiveness of therapy. AIM: The aim of the study was a qualitative analysis of the therapeutic process in a family whose member is suffering from schizophrenic psychosis. MATERIALS AND METHODS: The study of the process using qualitative research methodology in the paradigm of systemic thinking pointing to the mutual interactions in the family system inducing relapses in the identified patient, with identification of triangulation processes, transgenerational myths inheritance and coalitions formed by the family members. RESULTS: The course of a therapeutic process of the family consisting of a parental couple and an adult daughter who was a patient with schizophrenia was investigated. Relapses of the daughter's disease occurred at the time of over-controlling attitude of the mother. Excessive control was associated with the daughter's immediate cut off from the family, discontinuation of medication, and a relapse. The relapse meant a repeated attempt of the mother to take control over the daughter's medication. CONCLUSIONS: The analyzed family is genetically predisposed to the development of schizophrenic psychosis. Schizophrenia in the daughter is likely to have a neurodevelopmental background - it has developed as a result of the interaction of biological factors (genetic predisposition) and factors that interfered with the intrauterine development of the fetus. The burden of mental disorder is inherited transgenerationally in the analyzed family. Excessive anxiety of the mother, exaggerated emotional expression, and attempts to control the treatment lead to relapses of the daughter's disease. Recurrences are a circular process induced by the mother's attitude.
[Mh] Termos MeSH primário: Relações Familiares
Núcleo Familiar/psicologia
Psicoterapia
Esquizofrenia/terapia
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Masculino
Meia-Idade
Pesquisa Qualitativa
Recidiva
Esquizofrenia/patologia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE


  8 / 5107 MEDLINE  
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[PMID]:28794079
[Au] Autor:Fusco F; Conte MI; Diociaiuti A; Bigoni S; Branda MF; Ferlini A; El Hachem M; Ursini MV
[Ad] Endereço:Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR, Naples, Italy.
[Ti] Título:Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.
[So] Source:Pediatrics;140(3), 2017 09.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ ( )/ nuclear factor κB, essential modulator ( ) gene. Hemizygous loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for loss of function mutations in IP males resulted in the transmission of the disease to a female child. We searched for the mutant allele in blood, urine, skin, and sperm DNA and found that the 2 fathers were somatic and germ-line mosaics for the p.Gln132×mutation or the exon 4-10 deletion of , respectively. The highest level of mutant cells was detected in the sperm, which might explain the recurrence of the disease. We therefore recommend careful clinical evaluation in IP male cases and the genetic investigation in sperm DNA to ensure correct genetic counseling and prevent the risk of paternal transmission of IP.
[Mh] Termos MeSH primário: Genes Ligados ao Cromossomo X
Mutação em Linhagem Germinativa
Quinase I-kappa B/genética
Incontinência Pigmentar/genética
Mosaicismo
[Mh] Termos MeSH secundário: Adulto
Criança
Pré-Escolar
Pai
Feminino
Seres Humanos
Masculino
Núcleo Familiar
Espermatozoides/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IKBKG protein, human); EC 2.7.11.10 (I-kappa B Kinase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170811
[St] Status:MEDLINE


  9 / 5107 MEDLINE  
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[PMID]:28771284
[Au] Autor:DeBrew J
[Ti] Título:Who Will Help My Son?: A Family's Journey with Dyslexia.
[So] Source:J Psychosoc Nurs Ment Health Serv;55(8):27-30, 2017 Aug 01.
[Is] ISSN:0279-3695
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:It may seem unusual for a nurse to intervene and assist a child with a learning disability, but a mental health nurse who knows the warning signs of dyslexia is able to help families who are going through a difficult time. The current article details the author's experience regarding her son's dyslexia diagnosis. For her family, a nurse was a valuable resource. The impact the struggle had not only on her son, but also her family, and the changes brought about by getting a diagnosis and treatment, demonstrate the impact that nurses can have when family-focused care is provided. [Journal of Psychosocial Nursing and Mental Health Services, 55(8), 27-30.].
[Mh] Termos MeSH primário: Dislexia/diagnóstico
Dislexia/terapia
Família/psicologia
[Mh] Termos MeSH secundário: Criança
Dislexia/psicologia
Enfermagem Familiar/métodos
Seres Humanos
Núcleo Familiar
Enfermagem Psiquiátrica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM; N
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.3928/02793695-20170718-04


  10 / 5107 MEDLINE  
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[PMID]:28640050
[Au] Autor:Gerber L
[Ad] Endereço:Lois Gerber is a guardian ad litem for the state of Florida.
[Ti] Título:Healing old wounds.
[So] Source:Nursing;47(7):48-50, 2017 07.
[Is] ISSN:1538-8689
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Adaptação Psicológica
Núcleo Familiar/psicologia
Relações Enfermeiro-Paciente
Relações Pais-Filho
Pacientes/psicologia
Relações Profissional-Família
[Mh] Termos MeSH secundário: Idoso
Diabetes Mellitus/enfermagem
Feminino
Insuficiência Cardíaca/enfermagem
Serviços de Assistência Domiciliar
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:N
[Da] Data de entrada para processamento:170623
[St] Status:MEDLINE
[do] DOI:10.1097/01.NURSE.0000520506.52169.31



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