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1.
Arch Womens Ment Health ; 21(1): 105-111, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28884439

RESUMO

In recent years, there have been changes in the approach to maternal psychiatric disorders and their effects on the fetus, with the focus redirected to the search for biological markers. Neurotrophic factors and inflammatory processes have received particular attention in the past few years. According to the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), the study sample (n = 136) consisted of three groups: mothers with major depressive disorder (MDD group, n = 25), mothers with anxiety disorder (AD group, n = 18), and mothers without any psychiatric disorders (not diagnosed (ND) group, n = 93). During the delivery/cesarean section, a blood sample was obtained from the umbilical cord. Serum concentrations of BDNF, NT-3, FGF2, TNF-α, and neopterin were determined by enzyme-linked immunosorbent assay (ELISA), according to the manufacturer's procedure. Clinical and biochemical characteristics were assessed. We did not find a significant difference among the three study groups with regard to BDNF, NT-3, and TNF-α levels. The ANOVA test indicated statistically significant differences in FGF2 levels and neopterin between the study groups. The newborns of mothers with AD had significantly higher FGF2 levels and significantly higher neopterin levels when compared with those of mothers with MDD and healthy mothers. The present study sheds light on the effects of higher FGF2 and neopterin levels in fetuses exposed to AD. Our results should be replicated through further prospective studies with a larger sample size.


Assuntos
Transtornos de Ansiedade , Cordocentese , Transtorno Depressivo Maior , Sangue Fetal/química , Inflamação/diagnóstico , Mães/psicologia , Fatores de Crescimento Neural/sangue , Feminino , Humanos , Entrevistas como Assunto , Gravidez , Pesquisa Qualitativa , Inquéritos e Questionários
2.
J Matern Fetal Neonatal Med ; 30(14): 1734-1738, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27583439

RESUMO

OBJECTIVE: The aim of our study was to determine whether lipid solutions delivered separately or in mixture with total parenteral nutrition (TPN) solutions effect the balance between oxidant and antioxidant levels in premature infants. METHODS: A total of 60 preterm newborns who were delivered at their 30-34 gestational weeks and received TPN were included in the study. Premature newborns were randomized into two groups based on the delivery method of the lipid solution, separately (Group 1) or in mixture with TPN solutions (Group 2). Total antioxidant status (TAS), total oxidant status (TOS) and paraoxonase (PON-1) levels were analyzed in both blood samples, and oxidative stress index (OSI) was also calculated. RESULTS: Thirty cases from both groups were included in the study. Statistically significant decrease in the level of TAS and increase in the level of PON-1 were detected at 72 h of TPN therapy in both groups (p < 0.05). Statistically significant decrease in both TOS and OSI levels were observed in Group 2 (p < 0.05). In association with these findings, any statistically significant intergroup difference was not detected in both parameters regarding oxidant balance (p > 0.05). CONCLUSION: Our study showed that according to lipid administration method any difference for oxidant-antioxidant balance was not detected.


Assuntos
Antioxidantes/metabolismo , Arildialquilfosfatase/sangue , Recém-Nascido Prematuro/sangue , Lipídeos/administração & dosagem , Nutrição Parenteral/métodos , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Estresse Oxidativo , Adulto Jovem
3.
J Craniofac Surg ; 27(5): e492-e493, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27929384

RESUMO

A 23-day-old infant referred to the neonatal intensive care unit with difficulty breathing and inspiratory stridor increasing with exercise. Medical history included a cardiothoracic surgery for transposition of the great arteries, patent ductus arteriosus, atrial septal defect, and a history of intensive care unit from surgery. Flexible fiberoptic transnasal laryngoscopy revealed subglottic stenosis that was probably caused by prolonged intubation with a higher airway pressure. Computed tomographic scan of the neck showed a tiny stenosis without cartilage deformity and limited in subglottic region. Tracheotomy and external open surgery was found risky for sternal wound infection or mediastinitis as the neonate had newly thoracotomy. The patient had a balloon dilation under general anesthesia without intubation. Presenting symptoms of the neonate were fully improved with balloon dilation.


Assuntos
Laringoestenose/terapia , Cateterismo , Humanos , Recém-Nascido , Intubação/efeitos adversos , Laringoscopia , Laringoestenose/complicações , Laringoestenose/diagnóstico por imagem , Masculino , Sons Respiratórios/etiologia , Transposição dos Grandes Vasos
4.
Turk Kardiyol Dern Ars ; 44(6): 503-6, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27665332

RESUMO

Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM.


Assuntos
Cardiomiopatia Hipertrófica , Síndrome de Ellis-Van Creveld , Doenças do Recém-Nascido , Feminino , Humanos , Recém-Nascido
5.
J Matern Fetal Neonatal Med ; 29(8): 1274-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26030680

RESUMO

OBJECTIVES: The purpose of this study was to compare the efficacy and safety of two different catheterization techniques of exchange transfusion (ET) used in the therapy of newborn jaundice: fully automated two-way ET technique and the classical one-way ET. PATIENTS AND METHODS: The study included babies at gestational age of >34 weeks. In total, 107 ETs were performed on 86 babies. Totally, the umbilical vein (UV) group included 54 babies having undergone 69 ETs and the UV/UA group included 32 babies having undergone 38 ETs. RESULTS: The declines in bilirubin levels right after ET (p = 0.018) and 8 h after ET (p = 0.014) were higher in the fully automated UV/UA technique than in the classical UV technique. Furthermore, the duration of intensive phototherapy following ET was shorter in the UV/UA method than in the UV method (p = 0.003). There was no difference between the two methods in terms of ET-associated complications (p = 0.927). CONCLUSIONS: In neonatal hyperbilirubinemia, ET with fully automated UV/UA technique is more efficient than the classical ET technique, causing no additional side-effects. It is also more physiological than the classical technique, since it minimizes the fluctuations in the blood volume and intravascular pressure during ET.


Assuntos
Transfusão Total/métodos , Hiperbilirrubinemia Neonatal/terapia , Icterícia Neonatal/terapia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Fototerapia/estatística & dados numéricos , Estudos Retrospectivos , Artérias Umbilicais , Veias Umbilicais
6.
Arch Gynecol Obstet ; 292(1): 103-9, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25577281

RESUMO

PURPOSE: This study was designed to evaluate neopterin levels and low Apgar scores in pregnancies with gestational diabetes mellitus (GDM) vs. normal control pregnancies. METHODS: We carried out a cross-sectional study by enrolling 81 pregnant women with GDM and 38 pregnant women without GDM. RESULTS: Maternal and cord blood neopterin levels were higher in women with GDM. There was a significant positive association between fasting blood glucose levels and maternal serum neopterin levels. The results of 50-g oral glucose challenge tests revealed a correlation between maternal and cord neopterin levels. Pregnancies complicated by GDM exhibited lower fetal Apgar scores than those of control subjects. The levels of cord blood neopterin were inversely correlated with an fetal Apgar score of 1 min in patients with GDM. CONCLUSIONS: Patients with GDM had higher maternal and cord blood neopterin levels, and the cord blood neopterin levels are inversely associated with lower Apgar scores in women with GDM. The neopterin levels might be potential predictors of low fetal Apgar scores in women with GDM.


Assuntos
Índice de Apgar , Diabetes Gestacional/sangue , Neopterina/sangue , Adulto , Estudos Transversais , Feminino , Sangue Fetal , Teste de Tolerância a Glucose , Humanos , Recém-Nascido , Gravidez
7.
Pediatr Int ; 57(3): 422-6, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25444362

RESUMO

BACKGROUND: We investigated oxidized low-density lipoprotein (OxLDL) and ischemia-modified albumin (IMA) in cord blood and neonatal blood of 7-day-old neonates born to pre-eclamptic and normotensive healthy mothers. METHODS: The study was performed on 30 neonates born to pre-eclamptic and 20 neonates born to normotensive mothers. IMA and OxLDL were determined on spectrophotometry and ELISA, respectively. RESULTS: IMA in cord blood was higher in the pre-eclamptic group as compared with the normotensive group, but the difference between the groups was not significant. IMA in neonate venous blood was significantly higher in the pre-eclamptic group than in the normotensive group (P < 0.001). OxLDL in both cord blood and in neonate venous blood was significantly higher in the pre-eclamptic group compared with the normotensive group (P < 0.001). IMA and OxLDL were significantly decreased after delivery in both groups. CONCLUSIONS: Significantly increased cord blood OxLDL and significantly increased OxLDL and IMA 7 days after birth in neonates born to pre-eclamptic mothers might be an indicator of increased oxidative stress in pre-eclampsia.


Assuntos
Sangue Fetal/metabolismo , Lipoproteínas LDL/sangue , Estresse Oxidativo , Pré-Eclâmpsia/sangue , Adulto , Biomarcadores/sangue , Biomarcadores/metabolismo , Feminino , Seguimentos , Humanos , Masculino , Mães , Oxirredução , Gravidez , Estudos Retrospectivos , Albumina Sérica , Albumina Sérica Humana
8.
Pediatr Int ; 57(4): 608-13, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25488411

RESUMO

BACKGROUND: Paraoxonase-1 (PON-1) is an enzyme with a glycoprotein structure that depends on calcium and which is located in serum high-density lipoprotein (HDL). The aim of this study was to evaluate PON-1, and oxidant/antioxidant state, before and after treatment for neonatal sepsis, and to determine the usability of PON-1 in neonatal sepsis treatment. METHODS: A total of 35 neonatal sepsis patients and 35 healthy controls were included in the study. Activity of PON-1, total oxidant state (TOS) and total antioxidant state (TAS) were measured and oxidative stress index (OSI) was calculated. RESULTS: In the neonatal sepsis patients, pre-treatment TAS, TOS and OSI were significantly higher than the post-treatment levels (P < 0.0001, P < 0.0001 and P < 0.0001, respectively), and PON-1 was significantly lower (P < 0.0001). Similarly, pre-treatment TAS, TOS and OSI in the sepsis group were also significantly higher than in the control group (P < 0.0001, P < 0.0001 and P < 0.0001, respectively) and PON-1 was significantly lower (P < 0.0001). Post-treatment TAS in the sepsis group was significantly higher than in the control group (P = 0.009), whereas post-treatment TOS, OSI and PON-1 in the sepsis group were not significantly different to the control group (P = 0.078, P = 0.597 and P = 0.086, respectively). CONCLUSION: Low serum PON-1 was found in neonatal sepsis. Serum PON-1 is thought to be a useful biomarker to evaluate the effectiveness of treatment and recovery in neonatal sepsis.


Assuntos
Antioxidantes/metabolismo , Arildialquilfosfatase/sangue , Sepse Neonatal/sangue , Oxidantes/sangue , Estresse Oxidativo , Biomarcadores/sangue , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Retrospectivos
9.
Pediatr Int ; 56(3): e17-20, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24894940

RESUMO

Synovial sarcoma is rarely detected in infants, with an annual incidence of 0.5 per million. Synovial sarcoma occurs more frequently in adolescents and young adults, with the majority of patients presenting between 15 and 40 years of age. It is extremely rare, however, in pediatric patients under 2 years of age. In the present study we examined a 3-day-old male infant born at 32 weeks who had a mass on his left arm. Synovial sarcoma was identified on histopathological and immunohistochemical analysis of biopsy material acquired from the mass. On whole body magnetic resonance imaging, diffuse metastases were detected in the bilateral lungs in the retroperitoneal zone, in bilateral suprarenal glands, the right liver lobe, the right kidney, and the brain. To our knowledge this is the youngest patient to be diagnosed with synovial sarcoma in the literature.


Assuntos
Doenças do Prematuro , Sarcoma Sinovial , Humanos , Recém-Nascido , Masculino
10.
J Clin Psychopharmacol ; 34(2): 226-9, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24525643

RESUMO

OBJECTIVE: It is unclear whether antidepressant treatment has a preventive effect on negative neonatal outcomes due to major depression in pregnant women. The objective of the present study was to compare women with major depression treated with antidepressants, untreated women with major depression, and healthy women during pregnancy with respect to birth weight and preterm birth. METHODS: The study sample included a total of 23 women taking antidepressant medication, 36 women who were not taking antidepressant medication for major depression during pregnancy, and 30 healthy women. Major depression was diagnosed via the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. RESULTS: The study groups were similar with respect to sociodemographic characteristics. Compared with infants of healthy control subjects, infants of untreated major depressed women had significantly lower birth weight and shorter gestational age at delivery. There is no significant difference between infants of major depressed women treated with antidepressants and infants of healthy subjects for these variables. CONCLUSIONS: Our results suggest that antidepressants may have beneficial effects on the risk of low birth weight and preterm birth in the infants of depressed women.


Assuntos
Antidepressivos/efeitos adversos , Peso ao Nascer/efeitos dos fármacos , Transtorno Depressivo Maior/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Nascimento Prematuro/prevenção & controle , Adolescente , Adulto , Antidepressivos/uso terapêutico , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Masculino , Gravidez , Inibidores Seletivos de Recaptação de Serotonina/efeitos adversos , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Adulto Jovem
11.
J Matern Fetal Neonatal Med ; 27(17): 1723-7, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24345053

RESUMO

Sepsis is one of the most common infectious conditions in the neonatal period, and continues as a major source of morbidity and mortality. The aim of this study is to determine serum ischemia-modified albumin (IMA) levels in late-onset neonatal sepsis at the time of diagnosis and after therapy, and to show the meaningful on the follow-up. Also, it is aimed to compare serum IMA levels with serum C-reactive protein (CRP), procalcitonin (PCT) levels and white blood cell count. The study was performed on 33 premature babies with sepsis and 21 healthy premature controls at 7-28 days of age. In the sepsis group, biochemical parameters and blood culture samples were obtained from the blood at the onset and on the fifth day of treatment for each patient. Serum IMA, CRP, PCT and white blood cell count were significantly higher in the sepsis group before treatment when compared with the control group. In addition, the levels of IMA were positively correlated with white blood cell count, CRP and PCT in the sepsis group before treatment. In conclusion, serum IMA levels may be useful in late-onset neonatal sepsis at the time of diagnosis and after therapy. As far as we know this is the first report about the assesment of illness diagnosis and after therapy using serum IMA levels, and further studies are needed to confirm our results in larger groups of patients.


Assuntos
Doenças do Recém-Nascido/sangue , Sepse/sangue , Idade de Início , Biomarcadores/sangue , Proteína C-Reativa/análise , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/terapia , Recém-Nascido Prematuro/sangue , Doenças do Prematuro/sangue , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/epidemiologia , Doenças do Prematuro/terapia , Contagem de Leucócitos , Masculino , Sepse/congênito , Sepse/diagnóstico , Sepse/terapia , Albumina Sérica , Albumina Sérica Humana
12.
Afr J Paediatr Surg ; 10(2): 188-91, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23860075

RESUMO

Vaginal agenesis is known as one of the Müllerian anomalies. Müllerian anomalies occur during gonadal development and differentiation, and may lead to complex outcomes. McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by Müllerian anomalies with hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female newborn that developed hydronephrosis and respiratory distress due to compression of the cystic mass and underwent surgery on postpartum day 3. Pull-through vaginoplasty was performed with an abdomino-perineal approach. We report the unique treatment approach in this case.


Assuntos
Abdome/cirurgia , Anormalidades Múltiplas/diagnóstico , Procedimentos Cirúrgicos em Ginecologia/métodos , Cardiopatias Congênitas/diagnóstico , Hidrocolpos/diagnóstico , Períneo/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Polidactilia/diagnóstico , Doenças Uterinas/diagnóstico , Vagina/cirurgia , Anormalidades Múltiplas/cirurgia , Feminino , Seguimentos , Cardiopatias Congênitas/cirurgia , Humanos , Hidrocolpos/cirurgia , Recém-Nascido , Imageamento por Ressonância Magnética , Polidactilia/cirurgia , Doenças Uterinas/cirurgia , Vagina/anormalidades
13.
J Psychosom Res ; 75(1): 87-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23751245

RESUMO

OBJECTIVE: The present study comparatively examined the impact of maternal major depression, generalized anxiety disorder and panic disorder on gestational age and birth weight. METHODS: A total of 90 women (24 subjects with major depression, 19 subjects with panic disorder, 22 subjects with generalized anxiety disorder, and 25 healthy subjects) in the perinatal period who were admitted to three hospitals were included in the study. Psychiatric diagnoses were determined by means of the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. The birth weight and gestational age of the subjects in each groups were compared with one-way analysis of variance (ANOVA). RESULTS: There were significant differences among the study groups for birth weight and gestational age (P<0.001 for both variables). These parameters were significantly lower in the subjects with major depression (P=0.021 and P=0.015, respectively) and panic disorder (P<0.001 for both variables) compared to healthy controls. Compared with major depression, panic disorder was associated more negatively with birth weight (P=0.036). CONCLUSION: Major depression, and especially panic disorder, may negatively affect the gestational length and birth weight.


Assuntos
Transtornos de Ansiedade/fisiopatologia , Peso ao Nascer/fisiologia , Transtorno Depressivo Maior/fisiopatologia , Idade Gestacional , Transtorno de Pânico/fisiopatologia , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Transtornos de Ansiedade/psicologia , Filho de Pais com Deficiência , Transtorno Depressivo Maior/psicologia , Feminino , Humanos , Recém-Nascido , Masculino , Transtorno de Pânico/psicologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/psicologia
14.
J Obstet Gynaecol Res ; 39(5): 898-904, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23551806

RESUMO

AIM: The aim of this study was to investigate the oxidant-antioxidant status in babies born to pre-eclamptic mothers (BBPM). MATERIAL AND METHODS: The paraoxonase (PON)-1, total antioxidant status (TAS), and total oxidant status (TOS) levels were measured in the cord blood and venous blood (7th day) of BBPM (n = 31) and babies born to normotensive mothers (n = 25). RESULTS: The PON-1 and TOS levels in the cord blood and venous blood on the 7th day were not significantly different between the two groups; however, the cord blood TAS levels were higher in BBPM (P = 0.001), and the TAS levels in the venous blood were higher in the control group (P = 0.021). Furthermore, the cord blood PON-1 levels of babies born to severely pre-eclamptic mothers (n = 18) were higher than those of babies born to moderately pre-eclamptic mothers (n = 13) (P = 0.042). There were no differences in the cord blood TAS and TOS levels and venous blood PON-1, TAS, and TOS levels between babies born to severely and moderately pre-eclamptic mothers. CONCLUSION: The increased TAS levels found in the cord blood of BBPM indicate that the fetus is protected against oxidative damage caused by increased oxidative stress in the mother. To the best of our knowledge, this is the first study in the published work investigating PON-1 levels in BBPM.


Assuntos
Antioxidantes/análise , Arildialquilfosfatase/sangue , Oxidantes/sangue , Pré-Eclâmpsia/fisiopatologia , Desenvolvimento Infantil , Feminino , Sangue Fetal , Humanos , Recém-Nascido , Masculino , Estresse Oxidativo , Gravidez , Estudos Prospectivos , Índice de Gravidade de Doença
15.
Breastfeed Med ; 8(1): 53-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23039400

RESUMO

AIM: The aim of this prospective study was to examine the relationship between success of exclusive breastfeeding and postpartum depressive symptomatology. Our hypothesis was that mothers with depressive symptoms initially fail exclusive breastfeeding. SUBJECTS AND METHODS: One hundred ninety-seven mothers were enrolled in the study. The participants were interviewed twice. The first visit was within the first 48 hours after birth. The Edinburgh Postnatal Depression Scale (EPDS) was completed by the participants. The second interview was performed at 6 weeks. Participants answered questions regarding methods of breastfeeding for 6 weeks, any methodological problems, and nipple pain. The EPDS was again completed by the participants at 6 weeks. All newborns were term infants. RESULTS: All the participants were divided into two groups: exclusive breastfeeding and mixed-feeding (partial breastfeeding and/or bottle feeding). Both groups were compared in terms of features, such as mode of delivery, parity, prevalence of depressive symptomatology (at 48 hours and 6 weeks), and delayed onset of lactation within the first 48 hours. Statistical significance was found for only three variables: delayed onset of lactation within the first 48 hours, gestational age, and the problems related to breastfeeding methods. CONCLUSIONS: Clinicians should pay special attention to any lactation difficulty during the first week postpartum. Early lactation difficulties are associated with greater risk of early termination of breastfeeding and lower breastfeeding success.


Assuntos
Alimentação com Mamadeira/psicologia , Aleitamento Materno/psicologia , Depressão Pós-Parto/epidemiologia , Lactação/psicologia , Relações Mãe-Filho , Mães/psicologia , Adolescente , Adulto , Alimentação com Mamadeira/estatística & dados numéricos , Aleitamento Materno/estatística & dados numéricos , Feminino , Humanos , Recém-Nascido , Bem-Estar Materno , Mães/estatística & dados numéricos , Mamilos , Dor , Relações Médico-Paciente , Gravidez , Estudos Prospectivos , Fatores de Risco , Inquéritos e Questionários , Turquia/epidemiologia
17.
Am J Hum Genet ; 91(5): 897-905, 2012 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-23063620

RESUMO

Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the majority of cases. Here, we describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8. The mutant alleles comprise one nonsense, three missense, and two splice-site mutations; we demonstrate in zebrafish that, in contrast to the wild-type protein, the proteins containing all three missense alterations provide only weak rescue of an early gastrulation phenotype induced by Megf8 knockdown. We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. We did not observe any subject with biallelic loss-of function mutations, suggesting that some residual MEGF8 function might be necessary for survival and might influence the phenotypes observed.


Assuntos
Acrocefalossindactilia/genética , Estudos de Associação Genética , Proteínas de Membrana/genética , Mutação , Acrocefalossindactilia/diagnóstico , Alelos , Animais , Animais Geneticamente Modificados , Criança , Pré-Escolar , Fácies , Feminino , Genótipo , Humanos , Masculino , Proteínas de Membrana/química , Peixe-Zebra/genética
18.
Int J Clin Exp Med ; 5(4): 342-5, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22993655

RESUMO

Infantile hemangioma (IH) is the most common vascular tumor of childhood. A major feature of this tumor is rapid growth during a proliferation phase in the first year of life, followed by contraction through a slow involution phase. Several complications may emerge during this course. Bleeding at the site of the lesion and infection are the most common complications. 'Ankaferd Blood Stopper' (ABS) is a hemostatic agent produced as a mixture of five separate plant extracts. Provision of hemostasis by ABS is independent from coagulation factors and the standard coagulation cascade. Furthermore, ABS has an antimicrobial effect. In this article, we have presented a seven-year-old infant with IH on the lower lip who had been admitted with the symptoms of frequent bleedings and infection, and who was successfully treated with topical ABS in terms of control of bleeding and infection. To the best of our knowledge, this is the first reported case of IH that has been treated with ABS for bleeding.

19.
Pediatr Int ; 54(1): 131-6, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22114907

RESUMO

BACKGROUND: The purpose of the present study was to compare the cost-effectiveness and efficacy of nebulizer recombinant human DNase (rhDNase) and hypertonic saline (HS) as monotherapy and combined treatment in neonatal atelectasis. METHODS: Eighty-seven newborns with persistent atelectasis who did not respond to traditional treatment were studied retrospectively. Group 1 did not receive nebulizer drugs; Group 2 received 7%HS; Group 3 received rhDNase; and Group 4 received both 7%HS and rhDNase. Subjects' chest X-ray scores, partial pressure of CO(2), respiratory rate, fraction of inspired oxygen (FiO(2)) peak inspiratory pressure, atelectasis healing rate, median duration of nebulizer treatment and costs were compared. RESULTS: Percentages of improvement in atelectasis on Day 3 of treatment in Group 1, Group 2, Group 3 and Group 4 were 27, 70, 81 and 95%, respectively, while median duration of treatment was 8.1, 3.3, 2.9 and 2.4 days, respectively. Comparison of chest X-ray scores, partial pressure of CO(2), respiratory rate, FiO(2) and peak inspiratory pressure values before and 48 h after treatment did not yield a significant difference for the control group (P > 0.05), while a marked improvement was observed in other groups for all parameters (P < 0.05). The most distinct improvement was in Group 4, followed by Group 3. CONCLUSIONS: Although both the combined treatment with HS and rhDNase and their monotherapies are effective in the treatment of persistent atelectasis in newborns receiving mechanical ventilation, their combined use produces higher efficacy. The efficacy of rhDNase is superior to monotherapy with HS. Use of these two treatments concomitantly reduces the cost. To the best of our knowledge, the present study is the first to use HS alone or in combination with rhDNase in newborn patients.


Assuntos
Desoxirribonuclease I/uso terapêutico , Atelectasia Pulmonar/tratamento farmacológico , Respiração Artificial/efeitos adversos , Solução Salina Hipertônica/uso terapêutico , Terapia Combinada , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Nebulizadores e Vaporizadores , Atelectasia Pulmonar/terapia , Estudos Retrospectivos , Resultado do Tratamento
20.
Br J Oral Maxillofac Surg ; 50(6): 541-4, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21880407

RESUMO

Additional congenital anomalies have often been found in patients with orofacial clefts. We wanted to find out the incidence and type of congenital malformations that may accompany cleft palate (CP) and cleft lip and palate (CLP) in babies born in the Konya region. A total of 121 newborn babies with CP or CLP were prospectively included in the study, and all were assessed in detail for congenital anomalies. Of 121 babies, 86 (71%) had CLP and 35 (29%) had CP. There was at least one congenital malformation in 80 (66%) of the cases. Additional congenital malformations were seen in 26 (74%) of the 35 with isolated CP, and 54 (63%) in the 86 patients with CLP (p<0.05). The most common congenital malformation was congenital heart disease, followed by head and neck anomalies. The most common congenital heart disease was atrial septal defect. A serious chromosomal anomaly was found in 18/121 patients with CP or CLP (15%). Of the 80 babies in whom congenital malformations were found, 31 (39%) had dysmorphic features. While 21 (68%) of dysmorphic cases had isolated CP, 10 (32%) had CLP (p<0.05). The rates of premature delivery, intrauterine growth retardation, and consanguinity between parents were higher in patients with CP or CLP. The neonatal mortality was 20% (n=24). Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with CP and CLP, and these anomalies significantly increase their morbidity and mortality. All newborn babies with CP and CLP should be screened for additional congenital anomalies, particularly of the cardiovascular system.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Congênitas/epidemiologia , Osso e Ossos/anormalidades , Aberrações Cromossômicas/estatística & dados numéricos , Consanguinidade , Feminino , Retardo do Crescimento Fetal/epidemiologia , Cabeça/anormalidades , Cardiopatias Congênitas/epidemiologia , Comunicação Interatrial/epidemiologia , Humanos , Incidência , Mortalidade Infantil , Recém-Nascido , Masculino , Pescoço/anormalidades , Malformações do Sistema Nervoso/epidemiologia , Gravidez , Nascimento Prematuro/epidemiologia , Estudos Prospectivos , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Trissomia , Turquia/epidemiologia , Anormalidades Urogenitais/epidemiologia
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