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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 -
Journal of Dentistry Jun 2015Dental caries is the main problem oral health and it is not well established in the literature if the enamel defects are a risk factor for its development. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dental caries is the main problem oral health and it is not well established in the literature if the enamel defects are a risk factor for its development.
OBJECTIVE
Studies have reported a potential association between developmental defects enamel (DDE) and dental caries occurrence. We investigated the association between DDE and caries in permanent dentition of children and teenagers.
DATA SOURCES
A systematic review was carried out using four databases (Pubmed, Web of Science, Embase, and Science Direct), which were searched from their earliest records until December 31, 2014.
STUDY SELECTION
Population-based studies assessing differences in dental caries experience according to the presence of enamel defects (and their types) were included. PRISMA guidelines for reporting systematic reviews were followed. Meta-analysis was performed to assess the pooled effect, and meta-regression was carried out to identify heterogeneity sources. From the 2558 initially identified papers, nine studies fulfilled all inclusion criteria after checking the titles, abstracts, references, and complete reading. Seven of them were included in the meta-analysis with random model.
RESULTS
A positive association between enamel defects and dental caries was identified; meta-analysis showed that individuals with DDE had higher pooled odds of having dental caries experience [OR 2.21 (95% CI 1.3; 3.54)]. Meta-regression analysis demonstrated that adjustment for sociodemographic factors, countries' socioeconomic status, and bias (quality of studies) explained the high heterogeneity observed.
CONCLUSION
A higher chance of dental caries should be expected among individuals with enamel defects.
Topics: Adolescent; Child; Dental Caries; Dental Enamel; Female; Humans; Male; Tooth Abnormalities
PubMed: 25862273
DOI: 10.1016/j.jdent.2015.03.011 -
Journal of the Medical Association of... Aug 2015A birth prevalence of orofacial clefts (OFCs) worldwide has been documented to vary. However a systematic assessment is lacking. (Review)
Review
BACKGROUND
A birth prevalence of orofacial clefts (OFCs) worldwide has been documented to vary. However a systematic assessment is lacking.
OBJECTIVE
To assess the evidence in the literature for the birth prevalence of OFCs.
MATERIAL AND METHOD
A systematic literature search was conducted using electronic databases through PubMed between 1950 and June 2015 using key words and search terms of cleft lip palate OR orofacial cleft AND prevalence.
RESULTS
There were 45,193 patients with OFCs found in a study population of 30,665,615 live births. According to continents, the OFC birth prevalence (95% confidence interval)from Asia, North America, Europe, Oceania, South America, and Africa were 1.57 (1.54-1.60), 1.56 (1.53-1.59), 1.55 (1.52-1.58), 1.33 (1.30-1.36), 0.99 (0.96-1.02), and 0.57 (0.54-0.60) per 1,000 live births, respectively. The American Indians had the highest prevalence rates of 2.62 per 1,000 live births, followed by the Japanese, the Chinese, and the Whites of 1.73, 1.56, and 1.55 per 1,000 live births, respectively. The Blacks had the lowest rate of 0.58 per 1,000 live births.
CONCLUSION
Observed differences may also be of ethnic origin, genetic, environmental factors, and methods of ascertainment. Further investigations are needed to manage this global health problem.
Topics: Brain; Cleft Lip; Cleft Palate; Global Health; Humans; Prevalence
PubMed: 26742364
DOI: No ID Found -
Orphanet Journal of Rare Diseases Aug 2019Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
RESULTS
Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR: 0.654 [0.408-1.046]; OR : 1.291 [0.860-1.939]) or palate anomalies (OR: 1.731 [0.708-4.234]; OR : 0.628 [0.286-1.382]).
CONCLUSIONS
The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
Topics: Arachnodactyly; Chromosome Deletion; Craniosynostoses; Humans; Marfan Syndrome; Phenotype
PubMed: 31399107
DOI: 10.1186/s13023-019-1170-x -
Frontiers in Endocrinology 2022Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to... (Meta-Analysis)
Meta-Analysis
UNLABELLED
Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to genitalia abnormalities, anovulation, unreceptive endometrium and metabolic disturbances. Despite those challenges, many live births have been reported. In this systematic review, we focused on the key to successful assisted reproduction strategies and the potential pregnancy complications. We did a systematic literature search of Pubmed, Medline and Scopus for articles reporting successful pregnancies in CAH other than 21-hydroxylase deficiency, and found 25 studies reporting 39 pregnancies covering deficiency in steroidogenic acute regulatory protein, 17α-hydroxylase/17,20-lyase, 11β-hydroxylase, P450 oxidoreductase, cytochrome b5 and 3β-hydroxysteroid dehydrogenase. We summarized various clinical manifestations and tailored reproduction strategy for each subtype. Furthermore, a meta-analysis was performed to evaluate the pregnancy complications of CAH patients. A total of 19 cross-sectional or cohort studies involving 1311 pregnancies of classic and non-classic CAH patients were included. Surprisingly, as high as 5.5% (95% CI 2.3%-9.7%) of pregnancies were electively aborted, and the risk was significantly higher in those studies with a larger proportion of classic CAH than those with only non-classical patients (8.43% (4.1%-13.81%) VS 3.75%(1.2%-7.49%)), which called for better family planning. Pooled incidence of miscarriage was 18.2% (13.4%-23.4%) with a relative risk (RR) of 1.86 (1.27-2.72) compared to control. Glucocorticoid treatment in non-classical CAH patients significantly lowered the miscarriage rate when compared to the untreated group (RR 0.25 (0.13-0.47)). CAH patients were also more susceptible to gestational diabetes mellitus, with a prevalence of 7.3% (2.4%-14.1%) and a RR 2.57 (1.29-5.12). However, risks of preeclampsia, preterm birth and small for gestational age were not significantly different. 67.8% (50.8%-86.9%) CAH patients underwent Cesarean delivery, 3.86 (1.66-8.97) times the risk of the control group. These results showed that fertility is possible for CAH patients but special care was necessary when planning, seeking and during pregnancy.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=342642, CRD42022342642.
Topics: Abortion, Spontaneous; Adrenal Hyperplasia, Congenital; Cross-Sectional Studies; Cytochromes b5; Female; Glucocorticoids; Humans; Hydroxysteroid Dehydrogenases; Infant, Newborn; Pregnancy; Pregnancy Complications; Premature Birth; Reproduction; Steroid 17-alpha-Hydroxylase
PubMed: 36120452
DOI: 10.3389/fendo.2022.982953 -
Journal of Pediatric Surgery Aug 2021The bell-clapper deformity (BCD) predisposes to intravaginal torsion (IVT) and is classically bilateral. The precise pathological definition of what constitutes a BCD is... (Review)
Review
INTRODUCTION
The bell-clapper deformity (BCD) predisposes to intravaginal torsion (IVT) and is classically bilateral. The precise pathological definition of what constitutes a BCD is not clear. The current study aims to clarify the specific anatomic details of this anomaly.
METHODS
A systematic review was performed utilizing the PRISMA principles. Studies are presented chronologically based on their level of evidence. They are further divided into study types: autopsy and operative studies of acute torsion, intermittent torsion and studies of the contralateral testis in vanishing testis.
RESULTS
The bell-clapper deformity is best defined by complete investment of the testis, epididymis and a length of the spermatic cord by the tunica vaginalis. Based on autopsy studies the rate of BCD in scrotal testis varied from 4.9% to 16%; with bilaterality in 66%-100%. In cases of acute IVT bilaterality was noted in 54%-100%. The most disparate results were in cases of testicular regression syndrome where contralateral BCD was noted in 0%-87% of cases.
CONCLUSION
We suggest future studies employ the strict anatomical definition above. As there is evidence of age-dependent investment of the testes, it will be important to develop age-standardized measurements of intravaginal length of spermatic cord. This critical morphometric measurement will allow a better understanding of the risk of IVT.
LEVEL OF EVIDENCE
Systematic review of diagnostic studies: lowest level of evidence of included manuscripts Level IV (case-control studies with a poor reference standard).
Topics: Cryptorchidism; Gonadal Dysgenesis, 46,XY; Humans; Male; Spermatic Cord; Spermatic Cord Torsion
PubMed: 32762939
DOI: 10.1016/j.jpedsurg.2020.06.023 -
Phlebology Jul 2017Objectives Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and... (Review)
Review
Objectives Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. Methods We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases). Thirty-six publications (48 patients) fulfilled the eligibility criteria. Results The median age of patients was 23 years (IQR, 8-32), and 24 (50.0%) were males. Lower extremity was affected in 42 (87.5%) and upper extremity in 6 (12.5%) patients; 15 (31.3%) patients developed high-output heart failure; 12 (25.0%) patients had chronic venous ulcerations, whereas 4 (8.3%) manifested distal arterial ischemia. The spinal arteriovenous malformations were reported in six (12.5%) patients and coexistence of aneurysmatic disease in five (10.4%) patients. The most frequently utilized invasive treatments were embotherapy followed by amputation and surgical arteriovenous malformation resection, and occasionally stent-graft implantation. All modalities showed clinical improvement. However, long follow-up and outcome remained unclear. Conclusion A diagnosis of Parkes Weber syndrome should be made on the presence of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation (as main defect) in overgrowth extremity. Arteriovenous malformation presents the criterion for distinguishing Parkes Weber syndrome from Klippel-Trenaunay syndrome, which is substantial for treatment strategy. The primary management goal should be patient's quality of life improvement and complication reduction. Embolization alone/combined with surgical resection targeting occlusion or removal of arteriovenous malformation "nidus" reliably leads to clinical improvement.
Topics: Adolescent; Adult; Arteriovenous Malformations; Child; Diagnosis, Differential; Female; Humans; Klippel-Trenaunay-Weber Syndrome; Lymphatic Abnormalities; Male; Pregnancy; Pregnancy Complications, Cardiovascular; Quality of Life; Risk; Sturge-Weber Syndrome; Young Adult
PubMed: 27511883
DOI: 10.1177/0268355516664212 -
Reviews in Medical Virology Sep 2018Much progress with respect to congenital Zika virus (ZIKV) pathogenesis has been achieved after the 2015 outbreak in Brazil. It is now accepted that ZIKV is vertically... (Meta-Analysis)
Meta-Analysis Review
Much progress with respect to congenital Zika virus (ZIKV) pathogenesis has been achieved after the 2015 outbreak in Brazil. It is now accepted that ZIKV is vertically transmitted, infects cells of the developing central nervous system and the placenta, yet it is unclear to what extent placental affection contributes to the development of congenital ZIKV. The association between fulminant villitis and severe fetal involvement emerges as a possibility. ZIKV is unique among the Flaviviruses in its ability to be sexually transmitted, possibly responsible for its teratogenicity. Furthermore, there is controversy over the participation of antibody dependent enhancement (ADE) in patients with non-neutralizing anti-Flavivirus antibodies, a phenomenon previously recognized in serious DENV infections. Our aim was to analyze information regarding the contribution of the placental barrier as an actual player in neonatal ZIKV. Therefore, we underwent a systematic review with keywords "Zika virus" and "ZIKV". Articles were screened for relevance concerning the topics of microcephaly, transplacental transmission, sexual transmission, and ADE. We identified variables that affect the severity of congenital Zika syndrome: age of gestation at maternal infection, the extent of placental disruption (villitis), sexual transmission, initial viral replication at the uterine wall, anti-DENV antibodies, and the possibility of antibody-mediated transcytosis of ZIKV through the placenta. These questions may not seem relevant when Zika becomes endemic, and we are no longer witness to the extreme clinical sequelae seen when the virus moves through an immunologically naïve population; however, characterizing the pathogenesis of congenital Zika syndrome will continue to further our understanding.
Topics: Animals; Antibodies, Viral; Congenital Abnormalities; Disease Susceptibility; Female; Fetal Growth Retardation; Humans; Infectious Disease Transmission, Vertical; Placenta; Pregnancy; Sexually Transmitted Diseases, Viral; Syndrome; Zika Virus; Zika Virus Infection
PubMed: 29761581
DOI: 10.1002/rmv.1985 -
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