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Orphanet Journal of Rare Diseases Jun 2023CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain... (Review)
Review
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is increasingly recognized, and disease-modifying therapy was introduced; however, literature is scarce on the latter. This review analyzes BANDDOS and discusses similarities and differences with CSF1R-ALSP.We systematically retrieved and analyzed the clinical, genetic, radiological, and pathological data on the previously reported and our cases with BANDDOS. We identified 19 patients with BANDDOS (literature search according to the PRISMA 2020 guidelines: n = 16, our material: n = 3). We found 11 CSF1R mutations, including splicing (n = 3), missense (n = 3), nonsense (n = 2), and intronic (n = 2) variants and one inframe deletion. All mutations disrupted the tyrosine kinase domain or resulted in nonsense-mediated mRNA decay. The material is heterogenous, and the presented information refers to the number of patients with sufficient data on specific symptoms, results, or performed procedures. The first symptoms occurred in the perinatal period (n = 5), infancy (n = 2), childhood (n = 5), and adulthood (n = 1). Dysmorphic features were present in 7/17 cases. Neurological symptoms included speech disturbances (n = 13/15), cognitive decline (n = 12/14), spasticity/rigidity (n = 12/15), hyperactive tendon reflex (n = 11/14), pathological reflexes (n = 8/11), seizures (n = 9/16), dysphagia (n = 9/12), developmental delay (n = 7/14), infantile hypotonia (n = 3/11), and optic nerve atrophy (n = 2/7). Skeletal deformities were observed in 13/17 cases and fell within the dysosteosclerosis - Pyle disease spectrum. Brain abnormalities included white matter changes (n = 19/19), calcifications (n = 15/18), agenesis of corpus callosum (n = 12/16), ventriculomegaly (n = 13/19), Dandy-Walker complex (n = 7/19), and cortical abnormalities (n = 4/10). Three patients died in infancy, two in childhood, and one case at unspecified age. A single brain autopsy evidenced multiple brain anomalies, absence of corpus callosum, absence of microglia, severe white matter atrophy with axonal spheroids, gliosis, and numerous dystrophic calcifications.In conclusion, BANDDOS presents in the perinatal period or infancy and has a devastating course with congenital brain abnormalities, developmental delay, neurological deficits, osteopetrosis, and dysmorphic features. There is a significant overlap in the clinical, radiological, and neuropathological aspects between BANDDOS and CSF1R-ALSP. As both disorders are on the same continuum, there is a window of opportunity to apply available therapy in CSF1R-ALSP to BANDDOS.
Topics: Humans; Neuroglia; Leukoencephalopathies; Brain; Mutation; Nervous System Malformations; Atrophy
PubMed: 37349768
DOI: 10.1186/s13023-023-02772-9 -
Ultrasound in Obstetrics & Gynecology :... Nov 2012In this Review, we aim to provide up-to-date and evidence-based answers to common questions regarding the diagnosis and prognosis of prenatally detected agenesis of the... (Review)
Review
In this Review, we aim to provide up-to-date and evidence-based answers to common questions regarding the diagnosis and prognosis of prenatally detected agenesis of the corpus callosum (ACC). A systematic literature search was performed to identify all reports of ACC and reference lists of articles were identified. ACC involves partial or complete absence of the main commissural pathway that connects the two cerebral hemispheres, and can be isolated (with no other abnormalities) or complex (coexisting with other abnormalities). It is a rare finding and the prevalence is difficult to estimate because of selection bias in reported series. The corpus callosum (CC) can be assessed on ultrasound by direct visualization, but indirect features, such as ventriculomegaly, absence of the cavum septi pellucidi or widening of interhemispheric fissure, are often the reason for detection in a screening population. Careful imaging in a center with a high level of expertise is required to make a full assessment and to exclude coexisting abnormalities, which occur in about 46% of fetuses. When available, magnetic resonance imaging appears to be an important adjunct as it allows direct visualization. It can reduce false-positive rates on ultrasound and can confirm ACC, it can assess whether this is complete or partial and it can help in detecting coexisting brain abnormalities not seen on ultrasound. The overall rate of chromosomal abnormality in fetuses with ACC is 18%, but this high rate includes both isolated and complex ACC; more recent studies suggest that chromosomal abnormalities are rare in isolated cases. Nevertheless, postnatal follow-up studies suggest that about 15% of cases thought to be isolated prenatally were found to have associated abnormalities after birth. Neurodevelopmental outcome in isolated ACC was recently reported in a systematic review and suggested normal outcome in about 65-75% of cases. Findings need to be considered in light of the several limitations of existing studies, in terms of study design, selection bias, varying definitions and imaging protocols, ascertainment bias and lack of control groups. These uncertainties mean that antenatal counseling is difficult and further large prospective studies are needed.
Topics: Agenesis of Corpus Callosum; Counseling; Female; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 23024003
DOI: 10.1002/uog.12315 -
Pediatrics Jun 2015Ankyloglossia is a congenital condition characterized by an abnormally short, thickened, or tight lingual frenulum that restricts tongue mobility. The objective of this... (Review)
Review
OBJECTIVE
Ankyloglossia is a congenital condition characterized by an abnormally short, thickened, or tight lingual frenulum that restricts tongue mobility. The objective of this study was to systematically review literature on surgical and nonsurgical treatments for infants with ankyloglossia.
METHODS
Medline, PsycINFO, Cumulative Index of Nursing and Allied Health Literature, and Embase were searched up to August 2014. Two reviewers independently assessed studies against predetermined inclusion/exclusion criteria. Two reviewers independently extracted data regarding participant and intervention characteristics and outcomes and assigned quality and strength-of-evidence ratings.
RESULTS
Twenty-nine studies reported breastfeeding effectiveness outcomes (5 randomized controlled trials [RCTs], 1 retrospective cohort, and 23 case series). Four RCTs reported improvements in breastfeeding efficacy by using either maternally reported or observer ratings, whereas 2 RCTs found no improvement with observer ratings. Although mothers consistently reported improved effectiveness after frenotomy, outcome measures were heterogeneous and short-term. Based on current literature, the strength of the evidence (confidence in the estimate of effect) for this issue is low. We included comparative studies published in English. The evidence base is limited, consisting of small studies, short-term outcomes, and little information to characterize participants adequately. No studies addressed nonsurgical interventions, longer-term breastfeeding or growth outcomes, or surgical intervention compared with other approaches to improve breastfeeding, such as lactation consultation.
CONCLUSIONS
A small body of evidence suggests that frenotomy may be associated with mother-reported improvements in breastfeeding, and potentially in nipple pain, but with small, short-term studies with inconsistent methodology, strength of the evidence is low to insufficient.
Topics: Ankyloglossia; Breast Feeding; Child; Humans; Mouth Abnormalities; Treatment Outcome
PubMed: 25941303
DOI: 10.1542/peds.2015-0658 -
Journal of Vascular Surgery. Venous and... May 2018May-Thurner syndrome (MTS) is increasingly recognized as a frequent source of leg swelling and a precipitating factor for venous thromboembolism. This paper is a... (Review)
Review
OBJECTIVE
May-Thurner syndrome (MTS) is increasingly recognized as a frequent source of leg swelling and a precipitating factor for venous thromboembolism. This paper is a systematic review of the English literature on MTS with an analysis focusing on gender differences in presentation and treatment.
METHODS
A systematic review of the English literature between April 1967 and December 2014 was performed using the following terms: "May-Thurner syndrome," "Cockett syndrome," and "iliac vein compression syndrome." After review, there were 174 articles in the analysis. We first analyzed all presented cases, followed by a gender comparison if case reports and case series had detailed description. Asymptomatic patients with just anatomic compression without symptoms were excluded. Statistical differences between data sets were assessed using χ test and Student t-test.
RESULTS
There were 1569 patients with MTS after exclusion of articles based on our criteria. The female to male ratio was 2:1 (976 [67.1%] vs 480 [32.9%]). Women presented at a younger age compared with men (38.7 ± 14.0 years vs 46.2 ± 16.9 years; P = .02). Gender comparison at presentation, which was available for 254 patients, showed that men had significantly more reported leg swelling (92.7% vs 80.8%; P = .037) and more leg pain (88% vs 74.3%; P = .045) compared with women. There was no difference in the reported proportion of patients presenting with deep venous thrombosis between the two groups (88.9% vs 81.7%; P = .14). However, women were significantly more likely to have a pulmonary embolus on presentation compared with men (9.9% vs 1.6%; P = .035). Treatment modalities included endovascular interventions without thrombolysis (53%) or with thrombolysis (33.2%), open surgery (6.8%), and medical management (7%). Endovascular treatment was more common than surgical or medical treatment (P < .001). Because of lack of granularity in the data, it was not possible to distinguish treatment methods between female and male patients. There was no statistically significant difference in complication rate between men and women based on the articles that provided that information (P = .34). However, open procedures had significantly higher complications compared with endovascular interventions (P = .021).
CONCLUSIONS
Based on the reported literature, MTS is more common in women and is at least twice as frequent in women as in men. Men tend to have more pain and swelling in the legs, whereas women tend to be younger and more likely to have a pulmonary embolus on presentation. MTS and iliac vein compression are sometimes used interchangeably in an inaccurate manner.
Topics: Age Factors; Edema; Humans; Leg; May-Thurner Syndrome; Risk Factors; Sex Characteristics; Sex Factors; Venous Thromboembolism
PubMed: 29290600
DOI: 10.1016/j.jvsv.2017.11.006 -
Orphanet Journal of Rare Diseases May 2023The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS),... (Review)
Review
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.
INTRODUCTION
The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome (vEDS) and other sHTADs, critically appraise and synthesize the relevant literature. We also aimed to investigate how adults with sHTAD experience and perceive fatigue, and to discuss clinical implications and direction for further research.
METHODS
First, a systematic review was performed by searching the published literature in all relevant databases and other sources until 20th October 2022. Second, a qualitative focus group interview study was conducted of 36 adults with sHTADs (LDS n = 11, MFS n = 14, vEDS n = 11).
RESULTS
In the systematic review, 33 articles satisfied the eligibility criteria (3 reviews and 30 primary studies). Of the primary studies: 25 dealt with adults (MFS n = 17, MFS/EDS n = 1, EDS n = 2, LDS/vEDS n = 3, different sHTADs n = 2), 5 with children (MFS n = 4, different sHTADs n = 1). Twenty-two were cross-sectional quantitative studies, 4 prospective and 4 qualitative studies. The quality of the included studies was mostly good, but many had small sample sizes, low response rates and/or participants without verified diagnosis. Despite these limitations, studies indicated high prevalence of fatigue (ranging from 37 to 89%), and fatigue was associated with both health and psychosocial aspects. Few studies found that fatigue was associated with disease-related symptoms. In the qualitative focus groups most of the participants reported that they had experienced fatigue which influenced several aspects of life. Four themes related to fatigue were elucidated: (1) different diagnoses-different fatigue?, (2) the nature of fatigue, (3) searches for causes of fatigue, (4) dealing with fatigue in daily life. The four themes seemed mutually interrelated in terms of barriers, strategies and facilitators for dealing with fatigue. The participants experienced fatigue as a consistent dilemma between self-assertion and inadequacy. Fatigue seems to influence several aspects of daily life and may be one of the most debilitating symptoms of having a sHTAD.
CONCLUSION
Fatigue seems to negatively impact the lives of people with sHTADs and should be recognized as an important aspect in the lifelong follow-up of these patients. The life-threatening complications of sHTADs may result in emotional stress, including fatigue and the risk of developing a sedentary lifestyle. Research and clinical initiatives should consider rehabilitation interventions aiming at postponing the onset or reducing symptoms of fatigue.
Topics: Adult; Child; Humans; Prospective Studies; Marfan Syndrome; Loeys-Dietz Syndrome; Qualitative Research; Ehlers-Danlos Syndrome, Type IV; Fatigue
PubMed: 37208760
DOI: 10.1186/s13023-023-02709-2 -
The Cochrane Database of Systematic... Jun 2013Amelogenesis imperfecta (AI) is a tooth development disorder in which the teeth are covered with thin, abnormally formed enamel. This enamel is easily fractured and... (Review)
Review
BACKGROUND
Amelogenesis imperfecta (AI) is a tooth development disorder in which the teeth are covered with thin, abnormally formed enamel. This enamel is easily fractured and damaged, which affects the appearance of the teeth, especially if left untreated. Negative psychological outcomes, due to compromised appearance and function, in patients with AI, have been found to compromise a person's attractiveness and reduce social interaction. The treatment used depends on the severity of the problem.
OBJECTIVES
To compare the success rates of different restorative materials and techniques used for the restoration of anterior and posterior teeth with AI in terms of patient satisfaction (aesthetics and sensitivity) and function.
SEARCH METHODS
We searched the Cochrane Oral Health Group's Trials Register (to 18 April 2013), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2013, Issue 3), MEDLINE via OVID (1946 to 18 April 2013), EMBASE via OVID (1980 to 18 April 2013), CINAHL via EBSCO (1980 to 18 April 2013), Abstracts of the Conference Proceedings of the International Association for Dental Research (2001 to 18 April 2013) and reference lists of relevant articles. There were no restrictions on language or date of publication in the electronic searches.
SELECTION CRITERIA
Randomised controlled trials where children and adolescents with AI who required restoration of teeth were allocated to different restoration techniques would have been selected. Outcomes which would have been evaluated were patient satisfaction, aesthetics, masticatory function and longevity of restorations.
DATA COLLECTION AND ANALYSIS
Two review authors would have extracted data and assessed the risk of bias in included studies independently. Disagreement between the two authors would have been resolved by consulting a third review author. First authors were contacted for additional information and unpublished data.
MAIN RESULTS
No studies met the inclusion criteria for this review.
AUTHORS' CONCLUSIONS
We found no randomised controlled trials of restorative treatments for children and adolescents with AI, and therefore there is no evidence as to which is the best restoration. Well defined randomised controlled trials which recruit children and adolescents and focus on the type and severity of the disorder should be undertaken to determine the best intervention for restoring teeth affected by AI.
Topics: Adolescent; Amelogenesis Imperfecta; Child; Humans; Treatment Outcome
PubMed: 23744349
DOI: 10.1002/14651858.CD007157.pub2 -
Expert Opinion on Drug Safety Dec 2014Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion.... (Review)
Review
INTRODUCTION
Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists.
AREAS COVERED
This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post hoc because of several previously published meta-analyses and commentaries on this medication.
EXPERT OPINION
The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: i) selection of appropriate study population; ii) ascertainment of antihistamine exposures; and iii) ascertainment of birth defect outcomes. Selected antihistamines have been very well studied (e.g., loratadine); others, especially H2-receptor antagonists, require additional study before an assessment of safety with respect to birth defect risk could be made.
Topics: Congenital Abnormalities; Female; Histamine Antagonists; Humans; Pregnancy; Prenatal Exposure Delayed Effects
PubMed: 25307228
DOI: 10.1517/14740338.2014.970164 -
Respiratory Medicine Dec 2013Mounier-Kuhn syndrome or congenital tracheobronchomegaly is a chronic airway condition which for currently unknown reasons mostly affects males. It is commonly... (Review)
Review
Mounier-Kuhn syndrome or congenital tracheobronchomegaly is a chronic airway condition which for currently unknown reasons mostly affects males. It is commonly overlooked on conventional chest X-rays, and is considered to be rare, but the prevalence might be higher as commonly assumed. The hallmark of it is a dilatation of the main airways which frequently, but not always, causes marked, mainly respiratory, symptoms, and patients usually present with varying degrees of recurrent infections, breathlessness, haemoptysis, dyspnoea. Although at least 200 case reports have been published, there have been only a few attempts to review them, and none in the last 20 years. Due to the lack of clinical trials and wide variability of case-report format, a systematic review was deemed not feasible, therefore PubMed and Medline databases were searched using terms "Mounier-Kuhn syndrome", "tracheobronchomegaly", "tracheomegaly", and "bronchomegaly", without any time restrictions, to summarize currently known facts about the syndrome. To the authors' best knowledge, the result is currently the most comprehensive review of previously published literature about the congenital tracheobronchomegaly, and summarizes what's known about symptoms, prevalence, disease associations, and treatment options for this syndrome.
Topics: Adult; Aged; Aged, 80 and over; Anesthesia; Contraindications; Diagnosis, Differential; Dilatation, Pathologic; Dyspnea; Female; Humans; Infant; Male; Middle Aged; Pulmonary Disease, Chronic Obstructive; Recurrence; Respiratory Tract Infections; Tracheobronchomegaly
PubMed: 24070565
DOI: 10.1016/j.rmed.2013.08.042 -
BMC Pregnancy and Childbirth Jun 2021Neural tube defects (NTDs) are a group of disorders that arise from the failure of the neural tube close between 21 and 28 days after conception. About 90% of neural... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Neural tube defects (NTDs) are a group of disorders that arise from the failure of the neural tube close between 21 and 28 days after conception. About 90% of neural tube defects and 95% of death due to these defects occurs in low-income countries. Since these NTDs cause considerable morbidity and mortality, this study aimed to determine the prevalence and associated factors of NTDs in Africa.
METHODS
The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO number: CRD42020149356). All major databases such as PubMed/MEDLINE, EMBASE, CINAHL, Web of Science, African Journals Online (AJOL), and Google Scholar search engine were systematically searched. A random-effect model was used to estimate the pooled prevalence of NTDs in Africa, and Cochran's Q-statistics and I tests were used to assess heterogeneity between included studies. Publication bias was assessed using Begg 's tests, and the association between determinant factors and NTDs was estimated using a random-effect model.
RESULTS
Of the total 2679 articles, 37 articles fulfilled the inclusion criteria and were included in this systematic review and meta-analysis. The pooled prevalence of NTDs in Africa was 50.71 per 10,000 births (95% CI: 48.03, 53.44). Folic acid supplementation (AOR: 0.40; 95% CI: 0.19-0.85), maternal exposure to pesticide (AOR: 3.29; 95% CI: 1.04-10.39), mothers with a previous history of stillbirth (AOR: 3.35, 95% CI: 1.99-5.65) and maternal exposure to x-ray radiation (AOR 2.34; 95% CI: 1.27-4.31) were found to be determinants of NTDs.
CONCLUSIONS
The pooled prevalence of NTDs in Africa was found to be high. Maternal exposure to pesticides and x-ray radiation were significantly associated with NTDs. Folic acid supplementation before and within the first month of pregnancy was found to be a protective factor for NTDs.
Topics: Africa; Female; Humans; Infant, Newborn; Male; Neural Tube Defects; Pregnancy; Prenatal Care; Prevalence; Risk Factors
PubMed: 34126936
DOI: 10.1186/s12884-021-03848-9 -
The Journal of Clinical Pediatric... Jan 2023Structural abnormalities of the anterior teeth could be aesthetically compromising in young patients. The dentist must provide solutions while preserving dental tissue....
Structural abnormalities of the anterior teeth could be aesthetically compromising in young patients. The dentist must provide solutions while preserving dental tissue. Microabrasion approach can be a solution. We conducted a systematic literature review to evaluate whether microbrasion treatment in paediatric dentistry can improve aesthetic in cases of pre- or post-eruptive discolorations on tooth enamel. 741 articles published up to September 2021 were selected from 3 databases using the key word "microabrasion". 11 prospective studies including 6 randomized were relevant to the inclusion criteria. Microabrasion appears to be an effective and reliable technique for the management of pre and post enamel discoloration in paediatric dentistry, especially in fluorosis. More high-powered, well-conducted randomized studies with complete evaluation criteria are needed for other types of spots. Standardization of criteria for assessing treatment success and of the protocol required should be explored.
Topics: Child; Humans; Tooth Discoloration; Enamel Microabrasion; Pediatric Dentistry; Prospective Studies; Fluorosis, Dental; Dental Enamel; Tooth Bleaching
PubMed: 36627216
DOI: 10.22514/jocpd.2022.015