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Developmental Neuropsychology Jul 2023There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between... (Review)
Review
There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between SSC and cognition, a systematic literature search was conducted and eligible studies assessed for inclusion by two independent readers. Forty-eight studies met inclusion criteria. Small to medium but persistent effects on both general and some specific cognitive functions across age bands were found in higher quality studies for SSC overall. There was limited evidence for effects related to surgical correction. Methodologies varied substantially and there was a lack of longitudinal studies using broad assessment batteries.
Topics: Humans; Craniosynostoses; Cognition; Longitudinal Studies; Sutures
PubMed: 37341559
DOI: 10.1080/87565641.2023.2225662 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2017Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast... (Review)
Review
BACKGROUND
Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS.
MATERIAL AND METHODS
A search of the literature was performed from April to June 2016 in five electronic databases. Clinical interventional or observational studies, reviews, and case reports were included. The present systematic review was carried out strictly following PRISMA and Cochrane Collaboration criteria.
RESULTS
A total of 129 potential references were identified. After reviewing titles and abstracts, 77 of these did not meet the desired criteria and were discarded. The full text of the remaining 52 manuscripts was critically screened. Finally, 35 relevant papers were identified for inclusion in the present systematic review and classified according to topic type.
CONCLUSIONS
According to the information gathered, dentistry practitioners must be able to supply an early diagnosis through the recognition of AS clinical features and provide correct oral management. Additionally, they should be integrated in a multidisciplinary medical care team in order to improve the quality of life of the affected patients.
Topics: Acrocephalosyndactylia; Child; Dental Care; Humans
PubMed: 29053644
DOI: 10.4317/medoral.21628 -
The British Journal of Surgery Nov 2014Portal-systemic shunts (PSSs) are rarely seen in healthy individuals or patients with non-cirrhotic liver disease. They may play an important role in hepatic metabolism... (Review)
Review
BACKGROUND
Portal-systemic shunts (PSSs) are rarely seen in healthy individuals or patients with non-cirrhotic liver disease. They may play an important role in hepatic metabolism as well as in the spread of gastrointestinal metastatic tumours to specific organs. Small spontaneous PSSs may be more common than generally thought. However, epidemiological data are scarce and inconclusive. This systematic review examined the prevalence of reported PSSs and the associated detection methods.
METHODS
Literature up to 2011 was reviewed for adult patients with proven congenital or acquired PSSs. Only PSSs in normal livers were analysed for the methods of diagnosis. Eligible studies were identified by searching relevant databases, including PubMed, Embase, MEDLINE and the Cochrane Library. The selection of eligible articles was carried out using predefined inclusion criteria (adult, non-surgical PSS) and a set of search terms that were established before the articles were identified.
RESULTS
Eighty studies were included describing 112 patients with congenital or acquired PSSs. The majority were diagnosed incidentally using Doppler ultrasound imaging and CT.
CONCLUSION
Congenital and acquired PSSs are rare. They are usually clinically asymptomatic and discovered incidentally by radiological techniques. They may be clinically relevant owing to drug, tumour cell, metabolic and pathogen shunting.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Humans; Incidental Findings; Liver; Male; Middle Aged; Portal Vein; Prevalence; Vascular Malformations; Young Adult
PubMed: 25200002
DOI: 10.1002/bjs.9619 -
Ultrasound in Obstetrics & Gynecology :... Jul 2016Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate clinical personnel, and the reported rate is often affected by the adoption of different nomenclature, diagnostic criteria, outcome measures, duration of follow-up and neurodevelopmental tools. The aim of this systematic review was to explore the neurodevelopmental outcome of fetuses with a prenatal diagnosis of isolated posterior fossa anomalies.
METHODS
MEDLINE and EMBASE were searched electronically, utilizing combinations of the relevant medical subject heading terms for 'posterior fossa' and 'outcome'. Studies assessing the neurodevelopmental outcome in children with a prenatal diagnosis of isolated posterior fossa malformations were considered eligible. The posterior fossa anomalies analyzed included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. Meta-analyses of proportions were used to combine data, and between-study heterogeneity was explored using the I(2) statistic.
RESULTS
A total of 1640 articles were identified; 95 were assessed for eligibility and a total of 16 studies were included in the systematic review. The overall rate of abnormal neurodevelopmental outcome in children with a prenatal diagnosis of DWM was 58.2% (95% CI, 21.8-90.0%) and varied from 0-100%. In those with a prenatal diagnosis of MCM, the rate of abnormal neurodevelopmental outcome was 13.8% (95% CI, 7.3-21.9%), with a range of 0-50%. There was no significant association between BPC and the occurrence of abnormal neurodevelopmental delay, with a rate of 4.7% (95% CI, 0.7-12.1%) and range of 0-5%. Although affected by the very small number of studies, there was a non-significant occurrence of abnormal neurodevelopmental delay in children with a prenatal diagnosis of VH, with a rate of 30.7% (95% CI, 0.6-79.1%) and range of 0-100%.
CONCLUSIONS
Fetuses diagnosed with isolated DWM are at high risk of abnormal neurodevelopmental outcome, while isolated MCM or BPC have a generally favorable outcome. The risk of abnormal developmental delay in cases with isolated VH needs to be further assessed. In view of the wide heterogeneity in study design, time of follow-up, neurodevelopmental tests used and the very small number of included cases, further future large prospective studies with standardized and objective protocols for diagnosis and follow-up are needed in order to ascertain the rate of abnormal neurodevelopmental outcome in children with isolated posterior fossa anomalies. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Cranial Fossa, Posterior; Female; Humans; Magnetic Resonance Imaging; Nervous System Malformations; Pregnancy; Pregnancy Outcome; Ultrasonography, Prenatal
PubMed: 26394557
DOI: 10.1002/uog.15755 -
Anatomical Science International Jun 2015The prevalence and distribution of the sesamoid bones in the feet has been reported in the literature with a high degree of variability. This systematic review aims to... (Meta-Analysis)
Meta-Analysis Review
The prevalence and distribution of the sesamoid bones in the feet has been reported in the literature with a high degree of variability. This systematic review aims to provide a better estimate of the frequency of the sesamoids of the foot and their association with variables such as ancestry, gender, and side. Thirty-seven studies met the inclusion criteria and were submitted for meta-analyses, sensitivity analyses and proportion difference tests, whenever possible. At the metatarsophalangeal (MTP) joint of the hallux, sesamoids were nearly always present. At the interphalangeal (IP) joint, the pooled true estimates of large-sampled studies were: (1) an overall prevalence of 22.4 %, (2) a cadaveric rate at 71.6 %, and (3) a radiological rate (based on X-ray images) of 21.1 %. The pooled partition frequencies of the hallucal medial and lateral sesamoids were 10.7 and 1.3 %, respectively. Bipartism was the most frequent partition type (92 %), followed by tripartism (7.5 %) and quadripartism (0.5 %). Middle Eastern ancestry was associated with significantly lower hallucal partition rate (P < 0.0001) and African ancestry with significantly lower prevalence of the IP sesamoid than all other ethnicities (P < 0.001). Feet with a hallux valgus deformity seemed to be associated with significantly higher rate of partition of the medial sesamoid (odds ratio = 3) than that of the normal feet. The respective values of the pooled true prevalence in adults at the MTP joint for the 2nd, 3rd, 4th and 5th toes were 1.9, 0.32, 0.9 and 13 %, respectively. There was a significantly higher prevalence of tibial sesamoids vs lateral sesamoids, with pooled odds ratio of 34.7, 8, 4.8, and 2.27, respectively. Partition was found in around 10 % of the sesamoids of the 5th MTP joint; no partition was noted in the other toes. For most 2nd-5th MTP joints, European ancestry showed the highest frequency whereas African ancestry showed the lowest; Middle Eastern ancestry was in between. No sesamoids were found at the 4th proximal IP joint and at the 4th and 5th distal IP joints. No sesamoids were found at any IP joint in the feet of Middle Eastern and African populations. The pooled rates of the IP sesamoids of the second and third toes in European populations were 1.2 % for the 2nd proximal, 0.33 % for the second distal and 0.6 % for both IP joints of the third toe. This anatomical meta-analysis yielded results that are likely to be more accurate regarding the rates of the sesamoids in the foot, their laterality and partition. It also provided solid evidence for the genetic basis of the frequency distribution among the different populations.
Topics: Adolescent; Adult; Africa; Aged; Child; Child, Preschool; Europe; Female; Foot Deformities, Congenital; Hallux Valgus; Humans; Male; Metatarsophalangeal Joint; Middle Aged; Middle East; Prevalence; Racial Groups; Sesamoid Bones; Toe Joint; Young Adult
PubMed: 24801385
DOI: 10.1007/s12565-014-0239-9 -
Human Reproduction Update 2016Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly... (Review)
Review
BACKGROUND
Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis.
METHODS
A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations.
RESULTS
From 755 search retrieved references, 230 articles were analysed and 120 studied in detail. They were added to those included in a previous systematic review. Here, we report the clinical presentation and management of: agenesis or hypoplasia of one urogenital ridge; unilateral renal agenesis and ipsilateral blind or obstructed hemivagina or unilateral cervicovaginal agenesis; cavitated and non-communicating uterine horns and Müllerian atresias or agenesis, including Rokitansky syndrome; anomalies of the cloaca and urogenital sinus, including congenital vagino-vesical fistulas and cloacal anomalies; malformative combinations and other complex malformations. The clinical symptoms and therapeutic strategies for each complex genitourinary malformation are discussed. In general, surgical techniques to correct genital malformations depend on the type of anomaly, its complexity, the patient's symptoms and the correct embryological interpretation of the anomaly. Most anomalies can typically be resolved vaginally or by hysteroscopy, but laparoscopy or laparotomy is often required as well. We also include additional discussion of the catalogue and classification systems for female genital malformations, the systematic association between renal agenesis and ipsilateral genital malformation, and accessory and cavitated uterine masses.
CONCLUSIONS
Knowledge of the correct genitourinary embryology is essential for the understanding, study, diagnosis and subsequent treatment of genital malformations, especially complex ones and those that lead to gynaecological and reproductive problems, particularly in young patients. Some anomalies may require complex surgery involving multiple specialties, and patients should therefore be referred to centres that have experience in treating complex genital malformations.
Topics: Congenital Abnormalities; Early Diagnosis; Female; Genitalia, Female; Humans; Kidney; Kidney Diseases; Quality of Life; Reproduction; Unnecessary Procedures; Urogenital Abnormalities; Uterus; Vagina
PubMed: 26537987
DOI: 10.1093/humupd/dmv048 -
Obstetrical & Gynecological Survey Dec 2016The human vertebral column has a stable number of vertebrae and ribs, which is presumably the result of evolutionary selection. An association between an abnormal... (Review)
Review
IMPORTANCE
The human vertebral column has a stable number of vertebrae and ribs, which is presumably the result of evolutionary selection. An association between an abnormal vertebral pattern, especially in the cervical region, and congenital anomalies or adverse fetal outcome has been reported.
OBJECTIVE
The aim of this study was to review the current literature concerning an abnormal vertebral pattern and prevalence of cervical ribs in healthy subjects and in subjects with adverse outcome.
EVIDENCE ACQUISITION
Scientific databases were searched systematically. Studies assessing the number of vertebrae and/or ribs were included, and data concerning anomalies and outcome were extracted.
RESULTS
Thirty-nine studies including 75,018 healthy subjects and 6130 subjects with structural or chromosomal anomalies or adverse outcome were selected. The majority of these studies focused on the prevalence of cervical ribs. The prevalence of cervical ribs was considerably higher in fetuses with adverse outcome, including aneuploidies, compared with healthy individuals in the vast majority of studies. Studies suggest an association between cervical ribs and other structural anomalies.
CONCLUSIONS
These results demonstrate that detailed assessment of the fetal vertebral column, especially of the cervicothoracic region, could provide valuable information regarding fetal and neonatal prognosis. Based on the available evidence, the application of 3-dimensional (3D) ultrasound to assess the vertebral column and ribs, in particular the cervical region, warrants further research.
RELEVANCE
Prenatal assessment of the ribs and vertebral pattern by 3D ultrasound, which is currently not routinely performed, might be useful in the assessment of the fetus, because this can predict fetal and neonatal outcome in some cases.
Topics: Cervical Rib; Female; Humans; Infant, Newborn; Musculoskeletal Abnormalities; Patient Care Management; Pregnancy; Pregnancy Outcome; Prognosis; Ultrasonography, Prenatal
PubMed: 28005137
DOI: 10.1097/OGX.0000000000000388 -
Journal of the European Academy of... Apr 2022Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be... (Review)
Review
Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be induced by medications, procedures, or be related to medical conditions; however, the exact mechanisms that govern eyelash growth are not well elucidated. This study aims to identify and summarize aetiologies associated with eyelash trichomegaly. We report a systematic review of 148 clinical trials, prospective and retrospective studies, and case reports describing all evidence-based potential aetiologies of eyelash trichomegaly obtained from the Medline/PubMed and Cochrane Library through January 2021. Inclusion criteria were defined as (i) human studies involving congenital and acquired diseases in which eyelash trichomegaly is a characteristic or (ii) assessment of trichomegaly as an adverse or desired effect of a medication or procedure. Exclusion criteria included: animal studies, articles not available in English, outcomes unrelated to eyelash trichomegaly, and secondary review articles. Pharmacologic agents associated with eyelash trichomegaly included prostaglandin analogues (15-keto fluprostenol isopropyl ester, bimatoprost, latanoprost, and travoprost), epidermal growth factor receptor inhibitors (cetuximab, erlotinib, and panitumumab), interferon-alpha, and calcineurin inhibitors (tacrolimus and cyclosporine). Surgical procedures of the eyelid, as well as allergic rhinitis, atopic dermatitis, HIV, ichthyosis vulgaris (IV), uveitis, and vernal keratoconjunctivitis were also associated with increased eyelash growth. Congenital disorders associated with lengthened eyelashes included Cantú syndrome, CHOPS syndrome, Coffin-Siris syndrome, congenital heart disease, Cornelia de Lange syndrome, Costello syndrome, familial trichomegaly, Floating Harbor syndrome, Hermansky-Pudlak syndrome, Kabuki-Makeup syndrome, KBG syndrome, Oliver-McFarlane syndrome, Rubinstein-Taybi syndrome, and Smith-Magenis syndrome. While the most common cause of eyelash trichomegaly is topical bimatoprost use, better understanding of pathways implicated in eyelash trichomegaly may lead to the discovery of additional medications to stimulate eyelash growth and create avenues for future therapeutic interventions.
Topics: Abnormalities, Multiple; Animals; Bone Diseases, Developmental; Facies; Humans; Intellectual Disability; Prospective Studies; Retrospective Studies; Tooth Abnormalities
PubMed: 34919300
DOI: 10.1111/jdv.17877 -
Molecular Genetics and Genomics : MGG Sep 2022Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited...
Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular skeleton have central role in locomotion and movement. The different types of appendicular skeletal abnormalities are well described in the report of "Nosology and Classification of Genetic skeletal disorders: 2019 Revision". In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicular skeletal malformations. We mainly focused on the polydactyly, syndactyly, brachydactyly, split-hand-foot malformation and clubfoot disorders. To our knowledge, only nine genes of polydactyly, five genes of split-hand-foot malformation, nine genes for syndactyly, eight genes for brachydactyly and only single gene for clubfoot have been identified to be involved in disease pathophysiology. The current molecular genetic data will help life sciences researchers working on the rare skeletal disorders. Moreover, the aim of present systematic review is to gather the published knowledge on molecular genetics of appendicular skeleton, which would help in genetic counseling and molecular diagnosis.
Topics: Brachydactyly; Clubfoot; Humans; Limb Deformities, Congenital; Molecular Biology; Polydactyly; Syndactyly
PubMed: 35907958
DOI: 10.1007/s00438-022-01930-1 -
American Journal of Obstetrics and... Oct 2017In high-income countries, a healthy diet is widely accessible. However, a change toward a poor-quality diet with a low nutritional value in high-income countries has led... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
In high-income countries, a healthy diet is widely accessible. However, a change toward a poor-quality diet with a low nutritional value in high-income countries has led to an inadequate vitamin intake during pregnancy.
OBJECTIVE
We conducted a systematic review and meta-analysis to evaluate the association between multivitamin use among women in high-income countries and the risk of adverse birth outcomes (preterm birth [primary outcome], low birthweight, small for gestational age, stillbirth, neonatal death, perinatal mortality, and congenital anomalies without further specification).
STUDY DESIGN
We searched electronic databases (MEDLINE, Embase, Cochrane, Scopus, and CINAHL) from inception to June 17, 2016, using synonyms of pregnancy, study/trial type, and multivitamins. Eligible studies were all studies in high-income countries investigating the association between multivitamin use (3 or more vitamins or minerals in tablets or capsules) and adverse birth outcomes. We evaluated randomized, controlled trials using the Cochrane Collaboration tool. Observational studies were evaluated using the Newcastle-Ottawa Scale. Meta-analyses were applied on raw data for outcomes with data for at least 2 studies and were conducted using RevMan (version 5.3). Outcomes were pooled using the random-effect model. The quality of evidence was assessed using the Grades of Research, Assessment, Development and Evaluation approach.
RESULTS
We identified 35 eligible studies including 98,926 women. None of the studies compared the use of folic acid and iron vs the use of multivitamins. The use of multivitamin did not change the risk of the primary outcome, preterm birth (relative risk, 0.84 [95% confidence interval, 0.69-1.03]). However, the risk of small for gestational age (relative risk, 0.77 [95% confidence interval, 0.63-0.93]), neural tube defects (relative risk, 0.67 [95% confidence interval, 0.52-0.87]), cardiovascular defects (relative risk, 0.83 [95% confidence interval, 0.70-0.98]), urine tract defects (relative risk, 0.60 [95% confidence interval, 0.46-0.78]), and limb deficiencies (relative risk, 0.68 [95% confidence interval, 0.52-0.89]) was decreased. Of the 35 identified studies, only 4 were randomized, controlled trials. The degree of clinical evidence according to the Grades of Research, Assessment, Development, and Evaluation system was low or very low for all outcomes except for recurrence of neural tube defects in which a moderate degree of clinical evidence was found.
CONCLUSION
Routine multivitamin use in high-income countries can be recommended but with caution because of the low quality of evidence. Randomized, controlled trials or well-performed, large prospective cohort studies are needed.
Topics: Congenital Abnormalities; Developed Countries; Diet; Female; Humans; Infant, Newborn; Infant, Small for Gestational Age; Pregnancy; Pregnancy Outcome; Premature Birth; Vitamins
PubMed: 28377269
DOI: 10.1016/j.ajog.2017.03.029