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Genes Sep 2021Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of... (Review)
Review
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the , , and genes. Genetically, the gene contains 27 exons which encodes the Treacle protein. In , over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.
Topics: Choanal Atresia; DNA-Directed RNA Polymerases; Humans; Mandibulofacial Dysostosis; Nuclear Proteins; Phosphoproteins; Syndrome
PubMed: 34573374
DOI: 10.3390/genes12091392 -
World Journal of Gastroenterology Jul 2016Anorectal emergencies refer to anorectal disorders presenting with some alarming symptoms such as acute anal pain and bleeding which might require an immediate...
Anorectal emergencies refer to anorectal disorders presenting with some alarming symptoms such as acute anal pain and bleeding which might require an immediate management. This article deals with the diagnosis and management of common anorectal emergencies such as acutely thrombosed external hemorrhoid, thrombosed or strangulated internal hemorrhoid, bleeding hemorrhoid, bleeding anorectal varices, anal fissure, irreducible or strangulated rectal prolapse, anorectal abscess, perineal necrotizing fasciitis (Fournier gangrene), retained anorectal foreign bodies and obstructing rectal cancer. Sexually transmitted diseases as anorectal non-surgical emergencies and some anorectal emergencies in neonates are also discussed. The last part of this review dedicates to the management of early complications following common anorectal procedures that may present as an emergency including acute urinary retention, bleeding, fecal impaction and anorectal sepsis. Although many of anorectal disorders presenting in an emergency setting are not life-threatening and may be successfully treated in an outpatient clinic, an accurate diagnosis and proper management remains a challenging problem for clinicians. A detailed history taking and a careful physical examination, including digital rectal examination and anoscopy, is essential for correct diagnosis and plan of treatment. In some cases, some imaging examinations, such as endoanal ultrasonography and computerized tomography scan of whole abdomen, are required. If in doubt, the attending physicians should not hesitate to consult an expert e.g., colorectal surgeon about the diagnosis, proper management and appropriate follow-up.
Topics: Abscess; Adult; Anorectal Malformations; Digital Rectal Examination; Emergencies; Endoscopy; Fissure in Ano; Foreign Bodies; Fournier Gangrene; Gastrointestinal Hemorrhage; Hemorrhoids; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Perineum; Rectal Diseases; Rectal Neoplasms; Rectal Prolapse; Rectum; Sexually Transmitted Diseases; Thrombosis; Varicose Veins
PubMed: 27468181
DOI: 10.3748/wjg.v22.i26.5867 -
Eye (London, England) Aug 2021Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects)... (Review)
Review
Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional-having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications. Prophylactic laser retinopexy to the border of choroidal coloboma appears to be an attractive option for reducing risk of coloboma-related retinal detachment. However, a majority of the eyes have the optic disc within the choroidal coloboma, thus making it difficult to safely administer a complete treatment.
Topics: Coloboma; Humans; Microphthalmos; Optic Disk; Retinal Detachment; Visual Acuity
PubMed: 33746210
DOI: 10.1038/s41433-021-01501-5 -
Clinical Oral Investigations Feb 2022This study evaluated and compared the effect of silver diamine fluoride (SDF) and silver-modified atraumatic restorative treatment (SMART) sealants for the treatment of... (Randomized Controlled Trial)
Randomized Controlled Trial
Management of initial carious lesions of hypomineralized molars (MIH) with silver diamine fluoride or silver-modified atraumatic restorative treatment (SMART): 1-year results of a prospective, randomized clinical trial.
OBJECTIVES
This study evaluated and compared the effect of silver diamine fluoride (SDF) and silver-modified atraumatic restorative treatment (SMART) sealants for the treatment of initial carious lesions of permanent molars affected by molar incisor hypomineralization (MIH).
METHODS
One hundred and twelve hypomineralized permanent molars with ICDAS 1 or 2 lesions were selected in 48 children. The teeth were randomized into SDF and SMART sealant groups (n = 56 teeth/group) in a split-mouth fashion. Hypersensitivity, formation of caries, and enamel breakdown were evaluated in both groups. Hypersensitivity was assessed by Schiff Cold Air Sensitivity Scale (SCASS), and clinical assessments of SMART sealants were performed according to modified USPHS criteria at 1, 6, and 12 months. The data were analyzed statistically using Fisher's exact test, Kaplan-Meier analysis, Mann-Whitney U test, and Friedman test.
RESULTS
Twenty-six hypomineralized molars with marked baseline hypersensitivity showed significantly lower SCASS scores at all evaluation periods (p < 0.001). There was no significant difference in hypersensitivity scores between the groups at the repeated applications of SDF at 1, 6, and 12 months. The cumulative survival rates of SMART sealants on occlusal and palatal surfaces were 88.7% and 58.8%, respectively.
CONCLUSIONS
In hypomineralized molars, both SDF and SMART sealants showed favorable short-term prevention against dental caries while providing effective desensitization. Marginal discoloration was the most common side effect of the SMART sealants as a result of SDF application.
CLINICAL SIGNIFICANCE
Both SDF and SMART sealants showed similar short-term effectiveness as non-aerosol procedures in arresting enamel caries and reducing hypersensitivity in hypomineralized molars.
TRIAL REGISTRATION
Clinical Trials Registration Number: NCT03862014.
Topics: Child; Dental Atraumatic Restorative Treatment; Dental Caries; Dental Enamel Hypoplasia; Fluorides, Topical; Humans; Molar; Pit and Fissure Sealants; Prospective Studies; Quaternary Ammonium Compounds; Silver Compounds
PubMed: 34743243
DOI: 10.1007/s00784-021-04236-5 -
Swiss Dental Journal Dec 2021The objective was to systematically analyse clinical studies on restorative procedures for teeth affected by molar-incisor hypomineralisation (MIH). The databases...
The objective was to systematically analyse clinical studies on restorative procedures for teeth affected by molar-incisor hypomineralisation (MIH). The databases PubMed, Embase, and Cochrane Library were searched. Only retrospective and prospective clinical studies dealing with sealing or restoration of MIH-affected teeth were included. The language was restricted to English or German. Thirteen of 36 potentially eligible studies were included focusing on the following subjects: extension of enamel preparation, adhesive procedures prior to restoration, application of fissure sealants as well as restoration with conventional glass ionomer cements (GIC), resin modified glass ionomer cements (RMGIC), resin composites, and indirect restorations. Seven clinical studies were controlled trials. However, only two included MIH-unaffected teeth as control. No meta-analysis was performed due to the heterogeneity of study designs (e.g. severity of MIH or the restorative materials investigated). Based on the present analysis, the annual failure rates were in average 21% for fissure sealants, 22% for GIC, 1-6% for RMGIC, 13-32% for resin composites, and 0-7% for indirect restorations. In summary, only few tendencies can be deduced from this review at a low level of evidence (number of studies): 1) preparation margins in sound enamel seem to be superior to preparations in hypomineralised enamel (1 study), 2) RMGIC seems to be superior to GIC (3 studies), 3) resin composites may be used for restoring all severities of MIH (7 studies) with self-etch and etch-and-rinse adhesive systems generally not performing differently (3 studies), and 4) in cases of severe MIH, indirect restorations showed a good clinical success (4 studies).
Topics: Dental Enamel Hypoplasia; Dental Restoration, Permanent; Humans; Incisor; Molar; Prospective Studies; Retrospective Studies
PubMed: 33764037
DOI: No ID Found -
BMC Oral Health Jul 2022Molar-incisor hypomineralization (MIH) is a common condition among children that significantly increases the risk of caries. The objective of this research was to... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Molar-incisor hypomineralization (MIH) is a common condition among children that significantly increases the risk of caries. The objective of this research was to evaluate the clinical success of giomer- and conventional resin-based sealants applied on first permanent molars (FPMs) affected by MIH.
METHODS
One-hundred FPMs with MIH which were indicated for non-invasive fissure sealant were selected in 39 children, aged 6-12 years. Using a split mouth design, the FPMs were randomized into two groups; Group 1. Resin sealant (etch-and-rinse + Conceal F) and Group 2. Giomer sealant (self-etch primer + BeautiSealant). Clinical evaluation was performed using the modified United States Public Health Service (USPHS) criteria at 1, 3, 6 and 12 months. The Log-rank, Fisher's exact test and Kaplan-Meier analysis were used for statistical analysis.
RESULTS
At 12 months, the retention rates in Group 1 and Group 2 were 68% and %8, respectively (p = 0.000). The cumulative survival rates of conventional resin sealants were significantly higher than giomer sealants for all follow-up visits (p < 0.05). In Groups 1 and 2, the distribution of unsuccessful sealants on mandibular vs maxillary FPMs were 32.1% vs 31.8% (p = 0.612) and 91.7% vs 92.3% (p = 0.664), respectively. Although the success rate was higher for teeth with white opacities or lesions with less extension in Group 1, no significant difference was found. The average survival time was found as 10.46 ± 3.21 months in Group 1 and 4.02 ± 4.43 months in Group 2.
CONCLUSIONS
The conventional resin-based sealants yielded a better clinical performance over the 12-month evaluation period than the giomer sealants which were applied with self-etch primer. The high failure rate observed in giomer sealants could be explained by the possible deficiency in the etching capacity of self-etch primer on MIH-affected teeth. Trial registration ClinicalTrials.gov, NCT04929782. Registered 10 June 2021-Retrospectively registered, https://clinicaltrials.gov/ct2/show/NCT04929782 .
Topics: Child; Dental Caries; Dental Enamel Hypoplasia; Humans; Incisor; Molar; Pit and Fissure Sealants; United States
PubMed: 35790955
DOI: 10.1186/s12903-022-02298-9 -
BMC Medical Genetics Mar 2020Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein...
BACKGROUND
Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation.
METHODS
Individuals (363) with clinically diagnosed NS from four hospitals in South India were recruited and the exons of PTPN11 gene were sequenced.
RESULTS
Thirty-two previously described pathogenic variants in eight different exons in PTPN11 gene were detected in 107 patients, of whom 10 were familial cases. Exons 3, 8 and 13 had the highest number of pathogenic variants. The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affected. Congenital cardiac anomalies were present in 84% of the mutation-positive cohort, the majority being defects in the right side of the heart. The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cryptorchidism (44%).
CONCLUSION
The clinical features and mutational spectrum observed in our cohort are similar to those reported in other large studies done worldwide. This is the largest case series of NS-affected individuals with PTPN11 mutations described till date from India.
Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Family; Female; Genetic Association Studies; Genetic Predisposition to Disease; Germ-Line Mutation; Heart Defects, Congenital; Humans; India; Infant; Infant, Newborn; Male; Noonan Syndrome; Phenotype; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Young Adult
PubMed: 32164556
DOI: 10.1186/s12881-020-0986-5 -
European Archives of Paediatric... Feb 2022To systematically review the treatment modalities for molar-incisor hypomineralisation for children under the age of 18 years. The research question was, 'What are the...
PURPOSE
To systematically review the treatment modalities for molar-incisor hypomineralisation for children under the age of 18 years. The research question was, 'What are the treatment options for teeth in children affected by molar incisor hypomineralisation?'
METHODS
An electronic search of the following electronic databases was completed MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, LILACS, Google Scholar and Open Grey identifying studies from 1980 to 2020. The PRISMA guidelines were followed. The studies were screened, data extracted and calibration was completed by two independent reviewers.
RESULTS
Of 6220 potential articles, 34 studies were included. Twenty studies investigated management of molars with fissure sealants, glass ionomer cement, polyacid modified resin composite, composite resin, amalgam, preformed metal crowns, laboratory-manufactured crowns and extractions. In four articles management of incisors with microabrasion, resin-infiltration and a combination of approaches was reported. Eight studies looked at strategies to mineralise MIH-affected teeth and/or reduce hypersensitivity. Two studies investigated patient-centred outcomes following treatment. Due to the heterogeneity between the studies, meta-analysis was not performed.
CONCLUSION
The use of resin-based fissure sealants, preformed metal crowns, direct composite resin restorations and laboratory-made restorations can be recommended for MIH-affected molars. There is insufficient evidence to support specific approaches for the management of affected incisors. Products containing CPP-ACP may be beneficial for MIH-affected teeth.
Topics: Adolescent; Child; Composite Resins; Dental Enamel Hypoplasia; Humans; Incisor; Molar; Pit and Fissure Sealants
PubMed: 34110615
DOI: 10.1007/s40368-021-00635-0 -
Ugeskrift For Laeger Apr 2020Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are...
Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Diagnosing IV can be challenging, because its clinical features are subject to great variation, ranging from mild cases with slight xerosis to severe cases with marked scaling and formation of fissures. In this review, IV and its most relevant differential diagnoses, X-linked ichthyosis, autosomal recessive congenital ichthyosis and acquired ichthyosis are reviewed.
Topics: Humans; Ichthyosis Vulgaris
PubMed: 32400366
DOI: No ID Found -
Orphanet Journal of Rare Diseases Mar 2009Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The... (Review)
Review
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown.
Topics: Chromosomes, Human, Pair 11; Female; Humans; Infant, Newborn; Jacobsen Distal 11q Deletion Syndrome; Male
PubMed: 19267933
DOI: 10.1186/1750-1172-4-9