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Journal of Pediatric and Adolescent... Dec 2014The nonobstructive group of anatomic variants involving the reproductive tract includes vaginal agenesis as well as the congenital anomalies of the vagina and uterus,... (Review)
Review
BACKGROUND
The nonobstructive group of anatomic variants involving the reproductive tract includes vaginal agenesis as well as the congenital anomalies of the vagina and uterus, occurring without pain during the pubertal years.
OBJECTIVE
The objective is to discuss the non-obstructive morphologic variations in anatomy of the uterus and vagina.
DESIGN
Systematic review using the GRADE system.
RESULTS
These congenital anomalies are not associated with abnormalities of the external genitalia and therefore may be missed on routine physical examination. When these anomalies do cause symptoms they may be as minor as difficulty with menstrual hygiene or more significant such as primary amenorrhea, dyspareunia, recurrent pregnancy loss, and reproductive complications.
CONCLUSIONS
Women with non-obstructive reproductive tract anomalies present at various ages due to the asymptomatic nature or late symptom onset of certain conditions. An MRI is the gold standard in evaluation of such conditions to aid in confirming the müllerian variant. Each condition requires careful counseling because obstetric and gynecologic risks and consequences may differ. Treatment is individualized in cases of uterovaginal agenesis with both nonsurgical and surgical options available for neovagina creation. In cases of uterine or vaginal septae, the treatment timing may vary depending on patient history. Finally, in cases of non-obstructive communicating uterine horns, the risk of ectopic pregnancy is high in the remnant horn. Should a pregnancy occur in this small underdeveloped horn, therefore, excision is recommended.
Topics: Adult; Amenorrhea; Congenital Abnormalities; Dilatation; Dyspareunia; Female; Humans; Infertility, Female; Mullerian Ducts; Pregnancy; Pregnancy Complications; Surgically-Created Structures; Urogenital Abnormalities; Uterus; Vagina
PubMed: 25438707
DOI: 10.1016/j.jpag.2014.07.001 -
Child's Nervous System : ChNS :... Feb 2021Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities... (Review)
Review
Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton's bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team.
Topics: Acrocephalosyndactylia; Brain; Craniosynostoses; Facial Bones; Humans; Hydrocephalus
PubMed: 33083874
DOI: 10.1007/s00381-020-04934-7 -
The Lancet. Psychiatry May 2020Prenatal and perinatal insults are implicated in the aetiopathogenesis of psychotic disorders but the consistency and magnitude of their associations with psychosis have... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Prenatal and perinatal insults are implicated in the aetiopathogenesis of psychotic disorders but the consistency and magnitude of their associations with psychosis have not been updated for nearly two decades. The aim of this systematic review and meta-analysis was to provide a comprehensive and up-to-date synthesis of the evidence on the association between prenatal or perinatal risk and protective factors and psychotic disorders.
METHODS
In this systematic review and meta-analysis, we searched the Web of Science database for articles published up to July 20, 2019. We identified cohort and case-control studies examining the association (odds ratio [OR]) between prenatal and perinatal factors and any International Classification of Diseases (ICD) or Diagnostic and Statistical Manual of Mental Disorders (DSM) non-organic psychotic disorder with a healthy comparison group. Other inclusion criteria were enough data available to do the analyses, and non-overlapping datasets. We excluded reviews, meta-analyses, abstracts or conference proceedings, and articles with overlapping datasets. Data were extracted according to EQUATOR and PRISMA guidelines. Extracted variables included first author, publication year, study type, sample size, type of psychotic diagnosis (non-affective psychoses or schizophrenia-spectrum disorders, affective psychoses) and diagnostic instrument (DSM or ICD and version), the risk or protective factor, and measure of association (primary outcome). We did random-effects pairwise meta-analyses, Q statistics, I index, sensitivity analyses, meta-regressions, and assessed study quality and publication bias. The study protocol was registered at PROSPERO, CRD42017079261.
FINDINGS
152 studies relating to 98 risk or protective factors were eligible for analysis. Significant risk factors were: maternal age younger than 20 years (OR 1·17) and 30-34 years (OR 1·05); paternal age younger than 20 years (OR 1·31) and older than 35 years (OR 1·28); any maternal (OR 4·60) or paternal (OR 2·73) psychopathology; maternal psychosis (OR 7·61) and affective disorder (OR 2·26); three or more pregnancies (OR 1·30); herpes simplex 2 (OR 1·35); maternal infections not otherwise specified (NOS; OR 1·27); suboptimal number of antenatal visits (OR 1·83); winter (OR 1·05) and winter to spring (OR 1·05) season of birth in the northern hemisphere; maternal stress NOS (OR 2·40); famine (OR 1·61); any famine or nutritional deficits in pregnancy (OR 1·40); maternal hypertension (OR 1·40); hypoxia (OR 1·63); ruptured (OR 1·86) and premature rupture (OR 2·29) of membranes; polyhydramnios (OR 3·05); definite obstetric complications NOS (OR 1·83); birthweights of less than 2000 g (OR 1·84), less than 2500 g (OR 1·53), or 2500-2999 g (OR 1·23); birth length less than 49 cm (OR 1·17); small for gestational age (OR 1·40); premature birth (OR 1·35), and congenital malformations (OR 2·35). Significant protective factors were maternal ages 20-24 years (OR 0·93) and 25-29 years (OR 0·92), nulliparity (OR 0·91), and birthweights 3500-3999 g (OR 0·90) or more than 4000 g (OR 0·86). The results were corrected for publication biases; sensitivity and meta-regression analyses confirmed the robustness of these findings for most factors.
INTERPRETATION
Several prenatal and perinatal factors are associated with the later onset of psychosis. The updated knowledge emerging from this study could refine understanding of psychosis pathogenesis, enhance multivariable risk prediction, and inform preventive strategies.
FUNDING
None.
Topics: Adult; Birth Weight; Congenital Abnormalities; Famine; Female; Fetal Macrosomia; Fetal Membranes, Premature Rupture; Herpes Simplex; Herpesvirus 2, Human; Humans; Hypertension; Hypoxia; Infant, Newborn; Infant, Small for Gestational Age; Male; Malnutrition; Maternal Age; Mood Disorders; Parity; Paternal Age; Polyhydramnios; Pregnancy; Pregnancy Complications; Pregnancy Complications, Infectious; Premature Birth; Prenatal Care; Prenatal Exposure Delayed Effects; Protective Factors; Psychotic Disorders; Risk Factors; Seasons; Stress, Psychological; Young Adult
PubMed: 32220288
DOI: 10.1016/S2215-0366(20)30057-2 -
International Journal of Environmental... Feb 2022Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip... (Review)
Review
Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers-Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.
Topics: Collagen; Ehlers-Danlos Syndrome; Humans; Joint Instability; Quality of Life; Skin Abnormalities
PubMed: 35162892
DOI: 10.3390/ijerph19031870 -
The Journal of Maternal-fetal &... May 2018Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the... (Review)
Review
AIM
Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period.
MATERIALS AND METHODS
We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period.
RESULTS
We identified 123 cases. The median age at diagnosis was 25 GA (14-38 weeks GA). Eighty patients had 128 associated congenital anomalies. The congenital abnormalities most frequently associated with antenatal diagnosis of CPSS were congenital cardiac disease (30 cases), intrauterine growth restriction (21 cases), vascular anomalies (14 cases), and trisomy 21 (7 cases). Seventy-five complications were reported in the literature. The most frequent were antenatal hemodynamic abnormalities (27 cases), neonatal cholestasis (11 cases), and hyperammonemia (10 cases). Twenty-nine patients had no complications. The choice of treatment was conservative in 29/56 cases, interventional radiology in 15 cases and surgery in 15 cases (three of the latter after failure of embolization).
CONCLUSION
From this review, we propose an algorithm for the perinatal management of this congenital abnormality.
Topics: Algorithms; Congenital Abnormalities; Female; Fetal Growth Retardation; Gestational Age; Humans; Infant; Infant, Newborn; Portal Vein; Pregnancy; Ultrasonography, Prenatal; Vascular Malformations
PubMed: 28372492
DOI: 10.1080/14767058.2017.1315093 -
International Journal of Pediatric... Jan 2017Childhood haemoptysis is an uncommon presentation to the otolaryngologist but has a varied aetiology and can be life-threatening. We performed a systematic review of the... (Review)
Review
OBJECTIVES
Childhood haemoptysis is an uncommon presentation to the otolaryngologist but has a varied aetiology and can be life-threatening. We performed a systematic review of the literature to assess paediatric otolaryngologists' experience with haemoptysis, the aetiology involved, investigations performed and management provided. Using this, we produce an evidence-based treatment algorithm to guide clinicians.
METHODS
Systematic literature review of the PubMed, EMBASE and Cochrane Collaboration using the search terms 'paediatric', 'child', 'neonate', 'adolescent', 'haemoptysis', 'coughing blood', 'spitting blood' and 'otorhinolaryngology'.
RESULTS
Five articles were retrieved meeting the search criteria including 106 patients (age range 3 weeks to 18 years). The 3 most common aetiologies were bronchitis (n = 9), idiopathic/ no cause found (n = 9) and pneumonia (n = 7). Flexible bronchoscopy was the commonest investigation performed in non-active cases whilst rigid bronchoscopy was performed for active haemoptysis to provide therapeutic interventions. Chest x-ray was performed as a screening investigation rather than CT scan, which was reserved to assess pathology further, in recurrent cases and when x-ray is inconclusive. Management depended on aetiology. There was no difference in aetiology between age ranges.
CONCLUSIONS
Haemoptysis aetiology is varied and non-cancerous but is life-threatening in cases of pulmonary agenesis and vasculature abnormalities. No cause may be found. Clinicians' investigations and management plans should be based on the established care of haemoptysis. There is no difference between otolaryngologists and respiratory physicians' experience.
Topics: Abnormalities, Multiple; Adolescent; Bronchitis; Bronchoscopy; Child; Child, Preschool; Heart Defects, Congenital; Hemoptysis; Humans; Infant; Infant, Newborn; Lung; Lung Diseases; Otolaryngology; Pneumonia; Pulmonary Artery; Pulmonary Veins; Radiography, Thoracic; Tomography, X-Ray Computed; Vascular Malformations
PubMed: 28012543
DOI: 10.1016/j.ijporl.2016.10.021 -
BMC Pregnancy and Childbirth Dec 2023The occurrence of orofacial Clefts (OFCs) is a congenital disease caused by many factors. According to recent studies, air pollution has a strong correlation with the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The occurrence of orofacial Clefts (OFCs) is a congenital disease caused by many factors. According to recent studies, air pollution has a strong correlation with the occurrence of OFCs. However, there are still some controversies about the current research results, and there is no relevant research to review the latest results in recent years.
OBJECTIVE
In this paper, the authors conducted a systematic review and meta-analysis to explore the correlation between ambient air pollution and the occurrence of neonatal OFCs deformity.
METHODS
We searched Pubmed, Web of science, and Embase databases from the establishment of the database to May 2023. We included observational studies on the relationship between prenatal exposure to fine particulate matter 2.5 (PM2.5), fine particulate matter 10 (PM10), sulfur dioxide (SO2), nitrogen dioxide (NO2), ozone (O3), carbon monoxide (CO) and the risk of cleft lip (CL), cleft palate (CP), cleft lip with or without palate (CL/P). the Newcastle-Ottawa quality assessment scale (NOS) was used to evaluate the quality of the literature. Funnel plot and Egger's regression were used to verify the publication bias. Random effect model or fixed effect model was used to estimate the combined relative risk (RR) and 95% confidence interval (95%CI).
RESULTS
A total of eleven studies were included in this study, including four cohort studies and seven case-control studies, including 22,453 cases of OFCs. Ten studies had low risk of bias and only one study had high risk of bias. Three studies reported that PM was positively correlated with CL and CP, with a combined RR and 95%CI of 1.287(1.174,1.411) and 1.267 (1.105,1.454). Two studies reported a positive correlation between O and CL, with a combined RR and 95%CI of 1.132(1.047,1.225). Two studies reported a positive correlation between PM and CL, with a combined RR and 95%CI of 1.108 (1.017,1.206). No association was found between SO, CO, NO exposure during pregnancy and the risk of OFCs.
CONCLUSION
The results of this study showed that there was a significant statistical correlation between exposure to PM, PM, O and the risk of OFCs in the second month of pregnancy. Exposure assessment, research methods and mechanisms need to be further explored.
Topics: Infant, Newborn; Female; Pregnancy; Humans; Air Pollutants; Cleft Lip; Cleft Palate; Air Pollution; Particulate Matter; Ozone; Sulfur Dioxide; Nitrogen Dioxide; Environmental Exposure
PubMed: 38041018
DOI: 10.1186/s12884-023-06104-4 -
Oral Diseases May 2021The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF). (Review)
Review
OBJECTIVE
The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF).
METHODS
A comprehensive search of PubMed, LILACS, Livivo, Scopus, and Web of Science was conducted using key terms relevant to the research questions and supplemented by a gray literature search. The Methodological Quality and Synthesis of Case Series and Case Reports in association with the Case Series and Prevalence Studies from the Joanna Briggs Institute critical appraisal tools were used for the risk of bias. We followed the PRISMA checklist guidelines.
RESULTS
Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal syndrome was the most frequently reported syndrome with GF, represented by 54 individuals in 19 studies, followed by Zimmermann-Laband syndrome with 24 individuals in 15 studies and Costello syndrome, which was presented in a case series study with 41 individuals. Among reported cases, other clinical manifestations such as hypertrichosis, ectopic gingival calcification, and cherubism were described.
CONCLUSIONS
The results emphasize the need of systematic oro-dental-facial phenotyping for future descriptions as well as further molecular analysis in order to better understand the occurrence of syndromic GF.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Fibromatosis, Gingival; Hand Deformities, Congenital; Humans; Syndrome
PubMed: 32335995
DOI: 10.1111/odi.13369 -
Acta Obstetricia Et Gynecologica... May 2022Several studies have reported on the maternal age-associated risks of congenital anomalies. However, there is a paucity of studies with comprehensive review of... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Several studies have reported on the maternal age-associated risks of congenital anomalies. However, there is a paucity of studies with comprehensive review of anomalies. We aimed to quantify the risk of birth defects in children born to middle-aged mothers compared with that in children born to young or older mothers.
MATERIAL AND METHODS
We classified maternal ages into three groups: young (<20 years old), middle (20-34 years old) and older age (≥35 years old). Observational studies that met our age criteria were eligible for inclusion. The articles searched using the Embase and MEDLINE databases were those published from 1989 to January 21, 2021. The Newcastle-Ottawa scale was used to assess the risk of bias. If heterogeneity exceeded 50%, the random effect method was used; otherwise, the fixed-effect method was used. Prospero registration number: CRD42021235229.
RESULTS
We included 15 cohort, 14 case-control and 36 cross-sectional studies. The pooled unadjusted odds ratio (95% CI) of any congenital anomaly was 1.64 (1.40-1.92) and 1.05 (0.95-1.15) in the older and young age groups, respectively (very low quality of evidence). The pooled unadjusted odds ratio of chromosomal anomaly was 5.64 (5.13-6.20) and 0.69 (0.54-0.88) in the older and young age groups, respectively. The pooled unadjusted odds ratio of non-chromosomal anomaly was 1.09 (1.01-1.17) and 1.10 (1.01-1.21) in the older and young age groups, respectively (very low quality of evidence). The incidence of abdominal wall defects was increased in children of women in the young maternal age group.
CONCLUSIONS
We identified that very low quality evidence suggests that women in the older maternal age group had increased odds of having children with congenital anomalies compared with those in the 20-34 year age group. There was no increase in odds of children with congenital anomalies in women of <20 year age group except for abdominal defects compared with those in the 20-34 year age group. The results stem from very low quality evidence with no adjustment of confounders.
Topics: Adult; Case-Control Studies; Child; Cohort Studies; Congenital Abnormalities; Cross-Sectional Studies; Female; Humans; Maternal Age; Middle Aged; Parturition; Pregnancy; Young Adult
PubMed: 35288928
DOI: 10.1111/aogs.14339 -
Journal of Pediatric and Adolescent... Dec 2014Approximately 7% of girls will have an anatomic abnormality in their reproductive tract, diagnosed before or after puberty. (Review)
Review
BACKGROUND
Approximately 7% of girls will have an anatomic abnormality in their reproductive tract, diagnosed before or after puberty.
OBJECTIVE
It is important for providers to be aware of the obstructive reproductive tract conditions, the way in which various conditions present, and the way in which such conditions should be managed.
DESIGN
Systematic review of the literature using the GRADE evidence system.
RESULTS
There is limited data in most areas of obstructive reproductive tract anomalies; however, some retrospective and prospective series with small numbers are still useful to guide clinical practice.
CONCLUSIONS
Recommendations are based on limited or inconsistent scientific evidence. Recommendations are based primarily on consensus and expert opinion.
Topics: Congenital Abnormalities; Female; Genitalia, Female; Humans; Hymen; Menstruation Disturbances; Mullerian Ducts; Pain; Sexual Maturation; Urogenital Abnormalities; Uterus; Vagina
PubMed: 25438708
DOI: 10.1016/j.jpag.2014.09.001