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1.
J Assist Reprod Genet ; 38(8): 2173-2182, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34138380

RESUMO

PURPOSE: Pregnancies conceived by in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) are associated with an increased incidence of obstetrical and neonatal complications. With the growing rate of male factor infertility, which is unique by not involving the maternal milieu, we aimed to assess whether obstetrical outcomes differed between IVF/ICSI pregnancies due to male factor infertility and those not due to male factor infertility. METHODS: A retrospective cohort study of women receiving IVF/ICSI treatments at a single hospital over a five-year period was involved in the study. Inclusion criteria were women with a viable pregnancy that delivered at the same hospital. Pregnancies were divided into male factor only related and non-male factor-related infertility. The groups were compared for several maternal and neonatal complications. RESULTS: In total, 225 patients met the study criteria, with 94 and 131 pregnancies belonging to the male factor and non-male factor groups, respectively. Demographic and clinical characteristics were comparable, except for younger maternal age and higher incidence of twin pregnancies in the male factor group. A sub-analysis for singleton pregnancies revealed a less likelihood of cesarean delivery, preterm birth, and male gender offspring in the male factor group (p < 0.05). These differences were not observed in the sub-analysis for twin pregnancies. Other outcome measures were similar in both groups, both for singleton and twin pregnancies. CONCLUSION: Singleton IVF pregnancies due to male factor infertility are associated with a reduced incidence of some adverse outcomes, likely due to lack of underlying maternal medical conditions or laboratory conditions related to ICSI. Our findings require validation by further studies on larger samples.


Assuntos
Infertilidade Masculina/genética , Nascimento Prematuro/genética , Técnicas de Reprodução Assistida/tendências , Feminino , Fertilização in vitro , Humanos , Recém-Nascido , Infertilidade Masculina/fisiopatologia , Masculino , Idade Materna , Gravidez , Resultado da Gravidez , Gravidez de Gêmeos/genética , Injeções de Esperma Intracitoplásmicas/métodos
2.
J Surg Res ; 220: 293-299, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29180194

RESUMO

BACKGROUND: Patients with psychiatric disorders have an increased risk for morbidity and mortality from other medical conditions. METHODS: Medical records of all the patients undergoing appendectomy (n = 2594) and laparoscopic cholecystectomy (n = 2874) from 2009 to 2014 in one hospital were reviewed. For each patient with a documented psychiatric disorder undergoing surgery, four controls were matched. RESULTS: The final sample of patients undergoing appendectomy included 96 patients, whereas those undergoing laparoscopic cholecystectomy included 260 patients. In the emergent scenario, psychiatric patients had longer time from symptom appearance to admission, longer hospitalization duration, and increased rate and severity of postoperative complications. In the elective scenario, psychiatric patients were shown to have more postoperative respiratory complications. CONCLUSIONS: Our results, together with the high prevalence of psychiatric disorders in the population, underscore the importance of screening for psychiatric disorders and their proper documentation in surgical patients.


Assuntos
Apendicectomia/estatística & dados numéricos , Colecistectomia Laparoscópica/estatística & dados numéricos , Complicações Intraoperatórias/epidemiologia , Transtornos Mentais/complicações , Complicações Pós-Operatórias/epidemiologia , Adulto , Idoso , Apendicectomia/efeitos adversos , Colecistectomia Laparoscópica/efeitos adversos , Feminino , Humanos , Complicações Intraoperatórias/etiologia , Israel/epidemiologia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Prevalência , Estudos Retrospectivos
3.
Am J Ther ; 23(6): e1371-e1374, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-25285797

RESUMO

To report the experience of a large tertiary care pediatric center during a period of increasing Streptococcus pneumoniae antimicrobial resistance before the introduction of pneumococcal vaccine in Israel. Retrospective chart review of children diagnosed acute mastoiditis (AM) between January 1997 and December 2007. The children were divided into 4 age groups (6-11, 12-23, 24-35, and 36-40 months), and each group was compared with the others. A total of 198 AM episodes were recorded during the 10-year study period. The most prevalent pathogen was S. pneumonia, with a very low (15%) penicillin resistance rate (minimal inhibitory concentration ≥ 2). Complications were more prevalent in the 12- to 23-month age group. The number of AM cases increased during the study period. Penicillin resistance did not play an important role in determining the morbidity before the introduction of pneumococcal conjugate vaccine.


Assuntos
Antibacterianos/farmacologia , Mastoidite/epidemiologia , Penicilinas/administração & dosagem , Streptococcus pneumoniae/isolamento & purificação , Doença Aguda , Fatores Etários , Pré-Escolar , Farmacorresistência Bacteriana , Feminino , Hospitais Pediátricos , Humanos , Lactente , Masculino , Mastoidite/complicações , Mastoidite/microbiologia , Testes de Sensibilidade Microbiana , Penicilinas/farmacologia , Vacinas Pneumocócicas/administração & dosagem , Estudos Retrospectivos , Streptococcus pneumoniae/efeitos dos fármacos , Atenção Terciária à Saúde
4.
Rambam Maimonides Med J ; 12(3)2021 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-34270404

RESUMO

Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits that eventually progress to disrupt normal joint articulation. Mutations in the GALNT3 gene were shown to account for the hyperphosphatemic state in both HFTC and hyperostosis-hyperphosphatemia syndrome (HHS), the latter characterized by bone involvement. We present the case of a patient of a Druze ethnic origin with known HFTC that presented to our department with the first documented case of pathologic fracture occurring secondary to the disease. Our report introduces this new phenotypic presentation, suggests a potential role for prophylactic bone screening, and highlights the need for preconception genetic screening in selected populations.

5.
Breastfeed Med ; 15(9): 568-571, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32833514

RESUMO

Background: Sex differences in infant mortality and neonatal morbidity have been previously documented. Few studies, with conflicting results, have investigated the interaction between human milk (HM) macronutrients and energy content and infant sex. Objective: To test the null hypothesis that HM macronutrients content will not be affected by infant's sex. Materials and Methods: We compiled previously generated data on macronutrients content of colostrum samples and mature milk samples collected from lactating mothers of healthy term infants. Macronutrient content was measured using mid-infrared spectroscopy. Results: A total of 324 milk samples were included in the analysis consisting of 189 colostrum and 135 mature milk samples. There were 92 female and 97 male infants in the colostrum group and 65 female and 70 male infants in the mature milk group. Maternal age, gestational age, mode of delivery and percentage of large for gestational age, small for gestational age, and appropriate for gestational age were similar between female and male groups at all stages of lactation. Birth weight in male infants was significantly higher than in female infants (3389.5 ± 444.6 versus 3229.2 ± 415 g, p = 0.016). There were no statistically significant differences in macronutrient contents between the female and male groups at all stages studied. Conclusion: Macronutrients and energy content in colostrum and mature milk collected from mothers of term infants were unaffected by the sex of their offspring.


Assuntos
Colostro/química , Leite Humano/química , Nutrientes/análise , Fatores Sexuais , Aleitamento Materno , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Lactação/fisiologia , Lipídeos/análise , Masculino , Idade Materna , Proteínas do Leite/análise , Gravidez
6.
Eur J Med Genet ; 63(2): 103643, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30922925

RESUMO

Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions. The condition is caused by bi-allelic loss-of-function variants in the gene PCNT. Here we describe the identification of a novel founder pathogenic variant c.3465-1G > A observed in carriers from multiple Druze villages in Northern Israel. RNA studies show that the variant results in activation of a cryptic splice site causing a coding frameshift. The study was triggered by the diagnosis of a single child with MOPDII and emphasizes the advantages of applying next generation sequencing technologies in community genetics and the importance of establishing population-specific sequencing databases.


Assuntos
Antígenos/genética , Efeito Fundador , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Adolescente , Alelos , Linhagem Celular Tumoral , Análise Mutacional de DNA , Nanismo/diagnóstico , Nanismo/genética , Fácies , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/genética , Estudos de Associação Genética/métodos , Testes Genéticos , Humanos , Israel , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Linhagem , Fenótipo , Sequenciamento do Exoma
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