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1.
Fetal Pediatr Pathol ; 42(3): 456-463, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36218233

RESUMO

Introduction: Fusobacterium nucleatum is a gram-negative anaerobe, a constituent of the oral microflora, responsible for chronic periodontal diseases. Case Report: We describe a preterm infant with premature rupture of membranes at 23 weeks of gestational age due to F. nucleatum. The newborn died soon after birth. Placental histopathology showed severe necrotizing chorioamnionitis and funisitis with gram-negative bacilli. After autopsy, F. nucleatum was microbiologically isolated from the lung. The mother had dental hygiene 1 day before delivery, presenting mild and diffuse gingivitis. At admission, she had leukocytosis, foul-smelling vaginal discharge, but no fever. Conclusion: This case highlights the possibility of F. nucleatum spreading from oral cavity after a dental procedure to the placenta with chorioamnionitis and fetal infection. This raises the question of whether dental procedures during pregnancy should be accompanied by prophylactic antibiotics.


Assuntos
Corioamnionite , Morte Perinatal , Sepse , Gravidez , Humanos , Recém-Nascido , Feminino , Placenta/patologia , Corioamnionite/microbiologia , Fusobacterium nucleatum , Recém-Nascido Prematuro
2.
Artigo em Inglês | MEDLINE | ID: mdl-37981603

RESUMO

Freezing and thawing have the potential to alter the gross and histologic appearance of tissues, causing damage to individual cells and disrupting the overall architecture. In forensic investigations, freezing and thawing can play a crucial role in cases of unknown cause of death. Perpetrators may use freezing preservation to conceal the body or obscure the time of death. Freezing can also occur naturally when a body is exposed to the elements, sometimes even leading to death itself. We present a case report involving an autopsy performed on an infant, who died of natural causes, after undergoing freezing and thawing. The objective of this study was to identify and discuss the histological artifacts observed in different tissues as a result of the freeze-thaw process. Histologically, the infant's tissues exhibited the most common features described in the literature. Ice crystal artifacts, characterized by expansion of the extracellular space and tissue clefts, were found in the heart, brain, liver, lungs, and kidneys. On the contrary, adipose tissue was not affected, likely due to the scarcity of water. Freeze-thaw artifacts should be taken into account whether a body is known to have been frozen or to add further data if found already defrosted.

3.
Am J Med Genet A ; 188(1): 319-325, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34580982

RESUMO

Cranio-lenticulo-sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics, 2003, 113, 1-9 and Boyadjiev et al., Nature Genetics, 2006, 38, 1192-1197) showed recessive inheritance of the condition with a biallelic SEC23A missense variant in affected individuals. In contrast, another child with sporadic CLSD had a monoallelic SEC23A variant inherited from the reportedly unaffected father (Boyadjiev et al., Clinical Genetics, 2011, 80, 169-176), raising questions on possible digenism. Here, we report a 2-month-old boy seen because of large fontanels with wide cranial sutures, a large forehead, hypertelorism, a thin nose, a high arched palate, and micrognathia. His mother was clinically unremarkable, while his father had a history of large fontanels in infancy who had closed only around age 10 years; he also had a large forehead, hypertelorism, a thin, beaked nose and was operated for bilateral glaucoma with exfoliation of the lens capsule. Trio genome sequencing and familial segregation revealed a monoallelic c.1795G > A transition in SEC23A that was de novo in the father and transmitted to the proband. The variant predicts a nonconservative substitution (p.E599K) in an ultra-conserved residue that is seen in 3D models of yeast SEC23 to be involved in direct binding between SEC23 and SAR1 subunits of the coat protein complex II coat. This observation confirms the link between SEC23A variants and CLSD but suggests that in addition to the recessive inheritance described in the original family, SEC23A variants may result in dominant inheritance of CLSD, possibly by a dominant-negative disruptive effect on the SEC23 multimer.


Assuntos
Mutação de Sentido Incorreto , Proteínas de Transporte Vesicular , Sequência de Bases , Criança , Humanos , Lactente , Masculino , Mutação de Sentido Incorreto/genética , Proteínas de Transporte Vesicular/genética
4.
Acta Paediatr ; 109(9): 1791-1800, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-31977107

RESUMO

AIM: To estimate healthcare use and related costs for 2-year-old very preterm (VP) children after discharge from the neonatal unit. METHODS: As part of a European project, we recruited an area-based cohort including all VP infants born in three Italian regions (Lazio, Emilia-Romagna and Marche) in 2011-2012. At 2 years corrected age, parents completed a questionnaire on their child health and healthcare use (N = 732, response rate 75.6%). Cost values were assigned based on national reimbursement tariffs. We used multivariable analyses to identify factors associated with any rehospitalisation and overall healthcare costs. RESULTS: The most frequently consulted physicians were the paediatrician (85% of children), the ophthalmologist (36%) and the neurologist/neuropsychiatrist (26%); 38% of children were hospitalised at least once after the initial discharge, for a total of 513 admissions and over one million euros cost, corresponding to 75% of total healthcare costs. Low maternal education and parental occupation index, congenital anomalies and postnatal prematurity-related morbidities significantly increased the risk of rehospitalisation and total healthcare costs. CONCLUSION: Rehospitalisation and outpatient care are frequent in VP children, confirming a substantial health and economic burden. These findings should inform the allocation of resources to preventive and rehabilitation services for these children.


Assuntos
Lactente Extremamente Prematuro , Doenças do Prematuro , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Doenças do Prematuro/epidemiologia , Doenças do Prematuro/terapia , Itália/epidemiologia , Morbidade
5.
Environ Microbiol ; 21(10): 3683-3695, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31172651

RESUMO

Bifidobacterium bifidum is reported to be among the first colonizers of the newborn's gastrointestinal tract due to its ability to metabolize human milk oligosaccharides (HMOs). In order to investigate biological features that allow this bifidobacterial species to colonize a newborn, bifidobacterial internally transcribed spacer profiling of stool samples of 50 mother-infant dyads, as well as corresponding breastmilk samples, was performed. Hierarchical clustering based on bifidobacterial population profiles found in infant faecal samples revealed the presence of four bifidobacterial clusters or the so-called bifidotypes. Bifidobacterium bifidum was shown to be a key member among bifidotypes, in which its presence correlate with several different bifidobacterial species retrieved in infant faecal samples. For this reason, we investigated cross-feeding behaviour facilitated by B. bifidum on a bioreactor model using human milk as growth substrate. Transcriptional profiles of this strain were evaluated when grown on nine specific glycans typically constituting HMOs. Remarkably, these analyses suggest extensive co-evolution with the host and other bifidobacterial species in terms of resource provision and sharing, respectively, activities that appear to support a bifidobacteria-dominant microbiome.


Assuntos
Bifidobacterium bifidum/fisiologia , Coevolução Biológica , Microbioma Gastrointestinal , Adolescente , Adulto , Reatores Biológicos , Fezes/microbiologia , Feminino , Humanos , Recém-Nascido , Leite Humano/microbiologia , Oligossacarídeos/metabolismo , Polissacarídeos/metabolismo , Adulto Jovem
6.
Am J Med Genet A ; 176(5): 1166-1174, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29681106

RESUMO

Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence of neonatal hypotonia and feeding problems, hearing loss, tracheal anomalies, and osteopenia in VMS, and lymphedema in HS. VMS can be caused by autosomal recessive variants in DCHS1 as well, and HS can also be caused by autosomal recessive variants in CCBE1 and ADAMTS3. Here we report two siblings with VMS and one girl with HS, all with FAT4 variants, and provide an overview of the clinical findings in all patients reported with FAT4 variants. Our comparison of the complete phenotypes of patients with VMS and HS indicates a resemblance of several signs, but differences in several other main signs and symptoms, each of marked importance for affected individuals.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/genética , Estudos de Associação Genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Fenótipo , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Caderinas/genética , Proteínas de Ligação ao Cálcio/genética , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Fácies , Feminino , Estudos de Associação Genética/métodos , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Radiografia , Irmãos , Proteínas Supressoras de Tumor/genética
7.
Int J Mol Sci ; 19(6)2018 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-29865233

RESUMO

Wildlife has often presented and suggested the effects of endocrine disrupting chemicals (EDCs). Animal studies have given us an important opportunity to understand the mechanisms of action of many chemicals on the endocrine system and on neurodevelopment and behaviour, and to evaluate the effects of doses, time and duration of exposure. Although results are sometimes conflicting because of confounding factors, epidemiological studies in humans suggest effects of EDCs on prenatal growth, thyroid function, glucose metabolism and obesity, puberty, fertility, and on carcinogenesis mainly through epigenetic mechanisms. This manuscript reviews the reports of a multidisciplinary national meeting on this topic.


Assuntos
Disruptores Endócrinos/farmacologia , Sistema Endócrino/efeitos dos fármacos , Animais , Carcinogênese , Disruptores Endócrinos/efeitos adversos , Epigênese Genética , Feminino , Glucose/metabolismo , Humanos , Obesidade , Gravidez
8.
J Pediatr ; 182: 59-65.e7, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27865429

RESUMO

OBJECTIVE: To investigate the relationship between maternal education and breastfeeding in very preterm infants admitted to neonatal intensive care units. STUDY DESIGN: This prospective, population-based cohort study analyzed the data of all very preterm infants admitted to neonatal care during 1 year in 3 regions in Italy (Lazio, Emilia-Romagna, and Marche). The use of mothers' own milk was recorded at initial enteral feedings and at hospital discharge. We used multilevel logistic analysis to model the association between maternal education and breastfeeding outcomes, adjusting for maternal age and country of birth. Region was included as random effect. RESULTS: There were 1047 very preterm infants who received enteral feeding, and 975 were discharged alive. At discharge, the use of mother's own milk, exclusively or not, and feeding directly at the breast were significantly more likely for mothers with an upper secondary education or higher. We found no relationship between maternal education and type of milk at initial enteral feedings. However, the exclusive early use of the mother's own milk at initial feedings was related significantly with receiving any maternal milk and feeding directly at the breast at discharge from hospital, and the association with feeding at the breast was stronger for the least educated mothers. CONCLUSION: In this population-based cohort of very preterm infants, we found a significant and positive association between maternal education and the likelihood of receiving their mother's own milk at the time of discharge. In light of the proven benefits of maternal milk, strategies to support breastfeeding should be targeted to mothers with less education.


Assuntos
Aleitamento Materno/estatística & dados numéricos , Escolaridade , Nutrição Enteral/estatística & dados numéricos , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Adulto , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Itália , Masculino , Mães , Alta do Paciente , Estudos Prospectivos
9.
Am J Med Genet A ; 164A(4): 1015-20, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24458587

RESUMO

Fetal hydrops is a condition resulting from interstitial fluid accumulation in fetal compartments secondary to increased capillary permeability and characterized by high rates of perinatal mortality and morbidity. Clinical features include skin edema, hydrothorax, pericardial effusion, ascites with or without polyhydramnios, and placental edema. While it may occur as associated feature in multiple disorders, it has been documented to recur in Noonan syndrome, the most common disorder among RASopathies, but also in cardiofaciocutaneous and Costello syndromes. Here, we report on the occurrence of severe hydrops in a newborn heterozygous for the invariant c.4A>G missense change in SHOC2 which underlies Noonan-like syndrome with loose anagen hair, documenting that it represents a clinically relevant complication in this condition, shared by RASopathies.


Assuntos
Hidropisia Fetal/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Heterozigoto , Humanos , Recém-Nascido , Síndrome dos Cabelos Anágenos Frouxos/genética , Síndrome de Noonan/genética
10.
PLoS One ; 19(7): e0306769, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38980835

RESUMO

OBJECTIVES: To standardize the diagnosis of patent ductus arteriosus (PDA) and report its association with adverse neonatal outcomes in very low birth weight infants (VLBW, birth weight < 1500 g). STUDY DESIGN: A multicenter prospective observational study was conducted in Emilia Romagna from March 2018 to October 2019. The association between ultrasound grading of PDA and adverse neonatal outcomes was evaluated after correction for gestational age. A diagnosis of hemodynamically significant PDA (hsPDA) was established when the PDA diameter was ≥ 1.6 mm at the pulmonary end with growing or pulsatile flow pattern, and at least 2 of 3 indexes of pulmonary overcirculation and/or systemic hypoperfusion were present. RESULTS: 218 VLBW infants were included. Among infants treated for PDA closure in the first postnatal week, up to 40% did not have hsPDA on ultrasound, but experienced clinical worsening. The risk of death was 15 times higher among neonates with non-hemodynamically significant PDA (non-hsPDA) compared to neonates with no PDA. In contrast, the risk of death was similar between neonates with hsPDA and neonates with no PDA. The occurrence of BPD was 6-fold higher among neonates with hsPDA, with no apparent beneficial role of early treatment for PDA closure. The risk of IVH (grade ≥ 3) and ROP (grade ≥ 3) increased by 8.7-fold and 18-fold, respectively, when both systemic hypoperfusion and pulmonary overcirculation were present in hsPDA. CONCLUSIONS: The increased risk of mortality in neonates with non-hsPDA underscores the potential inadequacy of criteria for defining hsPDA within the first 3 postnatal days (as they may be adversely affected by other clinically severe factors, i.e. persistent pulmonary hypertension and mechanical ventilation). Parameters such as length, diameter, and morphology may serve as more suitable ultrasound indicators during this period, to be combined with clinical data for individualized management. Additionally, BPD, IVH (grade ≥ 3) and ROP (grade ≥ 3) are associated with hsPDA. The existence of an optimal timeframe for closing PDA to minimize these adverse neonatal outcomes remains uncertain.


Assuntos
Permeabilidade do Canal Arterial , Recém-Nascido de muito Baixo Peso , Humanos , Permeabilidade do Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/fisiopatologia , Recém-Nascido , Feminino , Masculino , Estudos Prospectivos , Hemodinâmica , Idade Gestacional , Ultrassonografia
11.
Arch Gynecol Obstet ; 288(6): 1223-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24071819

RESUMO

PURPOSE: Our purpose was to conduct a systematic review of the literature to determine whether synthetic pharmaceutical glucocorticoids (betamethasone and dexamethasone) are safe as well as effective in reducing neonatal respiratory morbidity at term of pregnancy prior to elective caesarean section. The overall incidence of respiratory disorders is estimated at 2.8%, and the main risk factors are gestational age and mode of delivery. Newborns delivered by elective caesarean section (CS after 37 weeks) are more susceptible to serious respiratory complications than babies born by vaginal delivery. Neonatal respiratory morbidity at term of pregnancy is low but not negligible. Further, it is increasing due to a drastic decline in trial of labour in those pregnant women who underwent a caesarean section in the past. Because prophylaxis is inexpensive, easy to administer, and safe, other studies should be conducted to confirm its effectiveness. METHODS: We conducted a systematic review of literature since 1965 on the discovery of action mechanisms, pharmaceutical development, proper dosage, and potential side effects of corticosteroids on the mother and offspring to extrapolate their efficacy as no clinical trial has directly demonstrated it. RESULTS: We extrapolated no negative effects on mother and foetus behaviour. CONCLUSIONS: Human studies suggest that corticosteroid administration may become a proper clinical indication prior to caesarean section in the reduction of neonatal respiratory problems.


Assuntos
Corticosteroides/uso terapêutico , Betametasona/uso terapêutico , Cesárea/efeitos adversos , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Parto Obstétrico/métodos , Parto Obstétrico/estatística & dados numéricos , Dexametasona/uso terapêutico , Feminino , Idade Gestacional , Glucocorticoides/uso terapêutico , Humanos , Incidência , Recém-Nascido , Morbidade , Gravidez , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Estudos Retrospectivos , Fatores de Risco
12.
Therap Adv Gastroenterol ; 16: 17562848231170052, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37124372

RESUMO

Current recommendations on Helicobacter pylori (H. pylori) eradication in children differ from adults. In H. pylori-infected adults, the eradication is always recommended because of the risk to develop gastrointestinal and non-gastrointestinal associated diseases. Instead, before treating infected children, we should consider all the possible causes and not merely focus on H. pylori infection. Indeed, pediatric international guidelines do not recommend the test and treat strategy in children. Therefore, gastroscopy with antimicrobial susceptibility testing by culture on gastric biopsies should be performed before starting the eradication therapy in children to better evaluate all the possible causes of the symptomatology and to increase the eradication rate. Whether antibiotic susceptibility testing is not available, gastroscopy is anyway recommended to better set any possible cause of symptoms and not simply focus on the presence of H. pylori. In children the lower antibiotics availability compared to adults forces to treat based on antimicrobial susceptibility testing to minimize the unsuccessful rates. The main antibiotics used in children are amoxicillin, clarithromycin, and metronidazole in various combinations. In empirical treatment, triple therapy for 14 days based either on local antimicrobial susceptibility or on personal antibiotic history is generally recommended. Triple therapy with high dose of amoxicillin is a valid alternative choice, either in double resistance or in second-line treatment. Moving from therapeutic regimens used in adults, we could also select quadruple therapy with or without bismuth salts. However, all the treatment regimens often entail unpleasant side effects and lower compliance in children. In this review, the alternative and not yet commonly used therapeutic choices in children were also analyzed.

13.
Microorganisms ; 11(4)2023 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-37110434

RESUMO

Fetal inflammatory response syndrome (FIRS) represents the fetal inflammatory reaction to intrauterine infection or injury, potentially leading to multiorgan impairment, neonatal mortality, and morbidity. Infections induce FIRS after chorioamnionitis (CA), defined as acute maternal inflammatory response to amniotic fluid infection, acute funisitis and chorionic vasculitis. FIRS involves many molecules, i.e., cytokines and/or chemokines, able to directly or indirectly damage fetal organs. Therefore, due to FIRS being a condition with a complex etiopathogenesis and multiple organ dysfunction, especially brain injury, medical liability is frequently claimed. In medical malpractice, reconstruction of the pathological pathways is paramount. However, in cases of FIRS, ideal medical conduct is hard to delineate, due to uncertainty in diagnosis, treatment, and prognosis of this highly complex condition. This narrative review revises the current knowledge of FIRS caused by infections, maternal and neonatal diagnosis and treatments, the main consequences of the disease and their prognoses, and discusses the medico-legal implications.

14.
PLoS One ; 18(3): e0282895, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36893129

RESUMO

The diagnosis of gestational diabetes mellitus (GDM) is important to prevent maternal and neonatal complications. This study aimed to investigate the feasibility of parameters of glycaemic variability to predict neonatal complications in women with GDM. A retrospective study was conducted on pregnant women tested positive at the oral glucose tolerance test (OGTT) during 16-18 or 24-28 weeks of gestation. Glycaemic measures were extracted from patients' glucometers and expanded to obtain parameters of glycaemic variability. Data on pregnancy outcomes were obtained from clinical folders. Descriptive group-level analysis was used to assess trends in glycaemic measures and foetal outcomes. Twelve patients were included and analysed, accounting for 111 weeks of observations. The analysis of trends in parameters of glycaemic variability showed spikes of glycaemic mean, high blood glucose index and J-index at 30-31 weeks of gestation for cases with foetal macrosomia, defined as foetal growth >90° percentile, neonatal hypoglycaemia and hyperbilirubinemia. Specific trends in parameters of glycaemic variability observed at third trimester correlate with foetal outcomes. Further research is awaited to provide evidence that monitoring of glycaemic variability trends could be more clinically informative and useful than standard glycaemic checks to manage women with GDM at delivery.


Assuntos
Diabetes Gestacional , Hipoglicemia , Recém-Nascido , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Resultado da Gravidez , Desenvolvimento Fetal , Hiperbilirrubinemia , Glicemia
15.
Children (Basel) ; 10(2)2023 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-36832324

RESUMO

BACKGROUND: Gestational SARS-CoV-2 infection can impact maternal and neonatal health. The virus has also been reported to cause newborn sensorineural hearing loss, but its consequences for the auditory system are not fully understood. OBJECTIVE: The aim of this study was to evaluate the impact of maternal SARS-CoV-2 infection during pregnancy on newborn' hearing function during the first year of life. METHODS: An observational study was conducted from 1 November 2020 to 30 November 2021 at University Modena Hospital. All newborns whose mother had been infected by SARS-CoV-2 during pregnancy were enrolled and underwent audiological evaluation at birth and at 1 year of age. RESULTS: A total of 119 neonates were born from mothers infected by SARS-CoV-2 during pregnancy. At birth, five newborns (4.2%) presented an increased threshold of ABR (Auditory Brainstem Evoked Response), but the results were confirmed only in 1.6% of cases, when repeated 1 month later, while the ABR thresholds in all other children returned to normal limits. At the 1-year follow-up, no cases of moderate or severe hearing loss were observed, while concomitant disorders of the middle ear were frequently observed. CONCLUSIONS: Maternal SARS-CoV-2 infection, regardless of the trimester in which it was contracted, appears not to induce moderate or severe hearing loss in infants. It is important to clarify the possible effect of the virus on late-onset hearing loss and future research is needed.

16.
Genes (Basel) ; 14(9)2023 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-37761885

RESUMO

In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the mandibular segments; and (4) true facial duplication, namely diprosopus. We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (DSD) (13%). Although the facial features are those that first strike the eye, the almost obligate presence of cerebral malformations suggests a disruptive event in the cephalic pole of the forming embryo. No major monogenic contribution has been recognized today for this type of malformation.


Assuntos
Fissura Palatina , Recém-Nascido , Humanos , Face , Encéfalo/diagnóstico por imagem , Sistema Nervoso Central
17.
Genes (Basel) ; 14(3)2023 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-36980822

RESUMO

Pathogenic variants in RASA1 are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same RASA1 variant.


Assuntos
Malformações Arteriovenosas , Mancha Vinho do Porto , Feminino , Humanos , Recém-Nascido , Criança , Gravidez , Mutação , Proteína p120 Ativadora de GTPase/genética , Mancha Vinho do Porto/genética , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/patologia , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/genética , Proteínas Ativadoras de GTPase/genética
18.
Am J Med Genet A ; 158A(9): 2245-9, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22807161

RESUMO

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.


Assuntos
Arritmias Cardíacas/diagnóstico , Dedos/anormalidades , Gigantismo/diagnóstico , Cardiopatias Congênitas/diagnóstico , Deficiência Intelectual/diagnóstico , Unhas Malformadas/genética , Costelas/anormalidades , Arritmias Cardíacas/genética , Feminino , Deleção de Genes , Doenças Genéticas Ligadas ao Cromossomo X , Gigantismo/genética , Glipicanas/genética , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Deficiência Intelectual/genética , Masculino , Linhagem
19.
Ital J Pediatr ; 48(1): 101, 2022 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-35710441

RESUMO

BACKGROUND: Multiple gestations represent a considerable proportion of pregnancies delivering in the late preterm (LP) period. Only 30% of LP twins are due to spontaneous preterm labor and 70% are medically indicated; among this literature described that 16-50% of indicated LP twin deliveries are non-evidence based. As non-evidence-based delivery indications account for iatrogenic morbidity that could be prevented, the objective of our observational study is to investigate first neonatal outcomes of LP twin pregnancies according to gestational age at delivery, chorionicity and delivery indication, then non evidence-based delivery indications. METHODS: Prospective cohort study among twins infants born between 34 + 0 and 36 + 6 weeks, in Emilia Romagna, Italy, during 2013-2015. The primary outcome was a composite of adverse perinatal outcomes. RESULTS: Among 346 LP twins, 84 (23.4%) were monochorionic and 262 (75.7%) were dichorionic; spontaneous preterm labor accounted for 85 (24.6%) deliveries, preterm prelabor rupture of membranes for 66 (19.1%), evidence based indicated deliveries were 117 (33.8%), while non-evidence-based indications were 78 (22.5%). When compared to spontaneous preterm labor or preterm prelabor rupture of membranes, pregnancies delivered due to maternal and/or fetal indications were associated with higher maternal age (p <  0.01), higher gestational age at delivery (p <  0.01), Caucasian race (p 0.04), ART use (p <  0.01), gestational diabetes (p <  0.01), vaginal bleeding (p <  0.01), antenatal corticosteroids (p <  0.01), diagnosis of fetal growth restriction (FGR) (p <  0.01), and monochorionic (p <  0.01). Two hundred twenty-six pregnancies (65.3%) had at least one fetus experiencing one composite of adverse perinatal outcome. Multivariate analysis confirmed that delivery indication did not affect the composite of adverse perinatal outcomes; the only characteristic that affect the outcome after controlling for confounding was gestational age at delivery (p <  0.01). Moreover, there was at least one adverse neonatal outcome for 94% of babies born at 34 weeks, for 73% of those born at 35 weeks and for 46% of those born at 36 weeks (p <  0.01). CONCLUSION: Our study suggests that the decision to deliver or not twins in LP period should consider gestational age at delivery as the main determinant infants' prognosis. Delivery indications should be accurately considered, to avoid iatrogenic early birth responsible of preventable complications.


Assuntos
Trabalho de Parto Prematuro , Nascimento Prematuro , Parto Obstétrico/métodos , Feminino , Idade Gestacional , Humanos , Doença Iatrogênica , Lactente , Recém-Nascido , Gravidez , Resultado da Gravidez/epidemiologia , Gravidez de Gêmeos , Nascimento Prematuro/epidemiologia , Estudos Prospectivos , Estudos Retrospectivos
20.
J Matern Fetal Neonatal Med ; 35(25): 8257-8266, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35078377

RESUMO

BACKGROUND: The late preterm (LP) rate in Western countries is 3-6% of all births, accounting for about two-thirds of the entire preterm population. However, all LP babies are not the same. AIMS: To identify pregnancies at risk for adverse outcomes in the LP period, we investigated how gestational age (GA) at delivery, delivery indication and prenatal risk factors may affect neonatal outcomes. STUDY DESIGN: Prospective cohort study among singleton infants born between 34 + 0 and 36 + 6 weeks, in Emilia Romagna, Italy, during 2013-2015. OUTCOMES MEASURES: The primary outcome was a composite of adverse perinatal outcomes. Multivariate logistic regression models were used to, respectively, investigate the effects of GA at delivery, circumstances at parturition and prenatal risk factors, on study outcomes after controlling for confounding variable. RESULTS: Among 1867 births, 302, 504, and 1061 infants were born at 34, 35, and 36 weeks, respectively. There were no neonatal deaths. An increased risk of composite neonatal outcome was observed among 34 and 35 weeks deliveries compared with 36 weeks, and among indicated deliveries compared with spontaneous. When studying prenatal risk factors, neonatal morbidity was associated with pre gestational diabetes, preterm premature rupture of membranes (pPROM), maternal obesity, bleeding and polyhydramnios; instead, preeclampsia had a protective effect. CONCLUSION: LP with indicated deliveries at 34 or 35 weeks, or with specific prenatal risk factors have worse neonatal outcome when compared to 36. Such differences should be considered when counseling patients and planning interventions such as timing of delivery in LP period.


Assuntos
Ruptura Prematura de Membranas Fetais , Nascimento Prematuro , Lactente , Recém-Nascido , Humanos , Feminino , Gravidez , Estudos Prospectivos , Ruptura Prematura de Membranas Fetais/epidemiologia , Nascimento Prematuro/epidemiologia , Idade Gestacional , Parto , Estudos Retrospectivos , Resultado da Gravidez/epidemiologia
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