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Asian Journal of Surgery Dec 2021
Topics: Craniofacial Dysostosis; Humans; Strabismus
PubMed: 34588136
DOI: 10.1016/j.asjsur.2021.08.051 -
Discovery Medicine 2021In eukaryotes, spliceosomes catalyze the splicing of pre-mRNA to mature mRNA. As the core subunit of U2 spliceosome, splicing factor SF3b4 plays not only a crucial role... (Review)
Review
In eukaryotes, spliceosomes catalyze the splicing of pre-mRNA to mature mRNA. As the core subunit of U2 spliceosome, splicing factor SF3b4 plays not only a crucial role in the splicing process, but also a role in transcription, translation, and cell signal transduction, and participates in the regulation of cell cycle, cell differentiation, and immune deficiency. In recent years, more and more research studies on SF3b4-related diseases, such as Nager syndrome and cancer, have been conducted. It has been found that SF3b4 mutations led to abnormal cell growth and were involved in the development and occurrence of these diseases. In this review, the diseases, mainly congenital diseases and tumors, in which SF3B4 is involved and the pathogenesis of them were summarized, aiming to provide a better understanding of the roles of SF3B4 in the prevention, diagnosis, and treatment of diseases in the future.
Topics: Humans; Mandibulofacial Dysostosis; Mutation; Neoplasms; RNA Splicing; RNA Splicing Factors
PubMed: 35220998
DOI: No ID Found -
Journal of Veterinary Internal Medicine May 2022Gastroesophageal reflux and regurgitation occurs in brachycephalic dogs, but objective assessment is lacking.
BACKGROUND
Gastroesophageal reflux and regurgitation occurs in brachycephalic dogs, but objective assessment is lacking.
OBJECTIVES
Quantify reflux in brachycephalic dogs using an esophageal pH probe and determine the association with scored clinical observations.
ANIMALS
Fifty-one brachycephalic dogs.
METHODS
Case review study. Signs of respiratory and gastrointestinal disease severity were graded based on owner assessment. An esophageal pH probe with 2 pH sensors was placed for 18-24 hours in brachycephalic dogs that presented for upper airway assessment. Proximal and distal reflux were indicated by detection of fluid with a pH ≤4. The median reflux per hour, percentage time pH ≤4, number of refluxes ≥5 minutes and longest reflux event for distal and proximal sensors were recorded. Association of preoperative respiratory and gastrointestinal grade, laryngeal collapse grade, and previous airway surgery with the distal percentage time pH ≤4 was examined using 1-way ANOVA.
RESULTS
A total of 43 of 51 dogs (84%; 95% confidence interval 72-92) displayed abnormal reflux with a median (range) distal percentage time pH ≤4 of 6.4 (2.5-36.1). There was no significant association between the distal percentage time pH ≤4 and respiratory grade, gastrointestinal grade, laryngeal collapse grade, or previous upper airway surgery.
CONCLUSIONS AND CLINICAL IMPORTANCE
The occurrence of reflux is not associated with owner-assessed preoperative respiratory and gastrointestinal grade, laryngeal collapse grade, and previous airway surgery. Esophageal pH measurement provides an objective assessment tool before and after surgery.
Topics: Animals; Craniosynostoses; Dog Diseases; Dogs; Gastroesophageal Reflux; Gastrointestinal Diseases; Hydrogen-Ion Concentration; Vomiting
PubMed: 35388526
DOI: 10.1111/jvim.16400 -
The Journal of Clinical Investigation Feb 2024The rediscovery of meningeal lymphatic vessels (MLVs) has sparked research interest in their function in numerous neurological pathologies. Craniosynostosis (CS) is...
The rediscovery of meningeal lymphatic vessels (MLVs) has sparked research interest in their function in numerous neurological pathologies. Craniosynostosis (CS) is caused by a premature fusion of cranial sutures during development. In this issue of the JCI, Matrongolo and colleagues show that Twist1-haploinsufficient mice that develop CS exhibit raised intracranial pressure, diminished cerebrospinal fluid (CSF) outflow, and impaired paravascular CSF-brain flow; all features that were associated with MLV defects and exacerbated pathology in mouse models of Alzheimer's disease. Activation of the mechanosensor Piezo1 with Yoda1 restored MLV function and CSF perfusion in CS models and in aged mice, opening an avenue for further development of therapeutics.
Topics: Mice; Animals; Brain; Lymphatic Vessels; Craniosynostoses; Alzheimer Disease; Disease Models, Animal; Ion Channels
PubMed: 38357924
DOI: 10.1172/JCI176858 -
European Journal of Human Genetics :... Jun 2023
Topics: Humans; Craniosynostoses; Smad6 Protein
PubMed: 36797468
DOI: 10.1038/s41431-023-01317-9 -
Child's Nervous System : ChNS :... Nov 2023Numerous classification systems of nonsyndromic sagittal craniosynostosis (NSC) are applied but none has gained a wide acceptance, since each classification is focused...
PURPOSE
Numerous classification systems of nonsyndromic sagittal craniosynostosis (NSC) are applied but none has gained a wide acceptance, since each classification is focused on distinct aspects of cranial dysmorphology. The goal of this study was to depict the most common combinations of radiomorphologic characteristics of NSC and to separate groups where the patients were morphologically similar to one another and at the same time significantly different from others.
METHODS
The study was conducted on anonymized thin-cut CT scans of 131 children with NSC aged 1-12 months (mean age 5.42 months). The type of cranial dysmorphology was assessed using four criteria: skull shape, pattern of sagittal suture fusion, morphologic features and cerebrospinal fluid (CSF) spaces alterations. After assigning the categories, an unsupervised k-modes clustering algorithm was applied to identify distinct patients clusters representing radiomorphologic profiles determined by investigated characteristics.
RESULTS
Cluster analysis revealed three distinct radiomorphologic profiles including the most common combinations of features. The profiles were not influenced by sex nor age but were significantly determined by skull shape (V = 0.58, P < 0.0001), morphologic features (V = 0.50, P < 0.0001) and pattern of sagittal suture fusion (V = 0.47, P < 0.0001). CSF alterations did not significantly correlate with the profiles (P = 0.3585).
CONCLUSION
NSC is a mosaic of radiologic and morphologic features. The internal diversity of NSC results in dissimilar groups of patients defined by unique combinations of radiomorphologic characteristics, from which the skull shape is the most differentiating factor. Radiomorphologic profiles support the idea of clinical trials targeted at more selective outcomes assessment.
Topics: Child; Humans; Infant; Craniosynostoses; Skull; Tomography, X-Ray Computed; Head; Outcome Assessment, Health Care
PubMed: 37243812
DOI: 10.1007/s00381-023-05998-x -
Indian Journal of Ophthalmology Jul 2022Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report... (Review)
Review
PURPOSE
Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser syndrome.
METHODS
The authors retrospectively evaluated the records of patients with Fraser syndrome who had presented to a tertiary eye care hospital in northern India in the last 2 years (from January 2019 to December 2020). The clinical features were studied, entered in MS Excel, and the data was evaluated.
RESULTS
Data of 15 patients with Fraser syndrome were found. Majority of the patients were males and presented in the pediatric age group. Bilateral involvement was more common, and the most common variant of cryptophthalmos was abortive. Complete and medial madarosis of the eyebrows was the most common periocular finding. Complete cryptophthalmos was associated with cystic globes, whereas abortive forms had superior symblepharon. Common systemic features included syndactyly, bifid nose, and urogenital anomaly.
CONCLUSION
Fraser syndrome is an extremely rare developmental disorder; it encompasses a wide range of ocular, periocular, and orbital anomalies, along with multiple pre-existing systemic anomalies. The treating ophthalmologist should always be careful in examining these patients.
Topics: Abnormalities, Multiple; Child; Eyelids; Female; Fraser Syndrome; Humans; Male; Microphthalmos; Rare Diseases; Retrospective Studies; Syndactyly
PubMed: 35791156
DOI: 10.4103/ijo.IJO_2627_21 -
The Indian Journal of Medical Research Mar 2022Ocular hypertelorism constitutes an important component of many clinical syndromes. It is typically recommended to use inter-pupillary distance (IPD) for objective...
BACKGROUND & OBJECTIVES
Ocular hypertelorism constitutes an important component of many clinical syndromes. It is typically recommended to use inter-pupillary distance (IPD) for objective evaluation of ocular hypo/hypertelorism. Barring infancy, there is a scarcity of data on this anthropometric parameter relating to the ocular apparatus. This study aims to study auxological dynamics of IPD in children of Indian origin.
METHODS
A total of 3622 ( 2239 males and, 1383 females) normal, healthy Indian children of North-western origin, aged one month to 14 yr comprised the sample for this study. Inner and outer-canthal distance were measured using standardized anthropometric techniques. None of the children who participated in this study had craniofacial dysmorphism or any body deformity. Mean (standard deviation SD) and percentiles were calculated for IPD in male and female subjects at different age levels.
RESULTS
IPD increased from 4.68±0.21 to 6.19±0.36 cm in males and from 4.59±0.26 to 6.08±0.25 cm in females between one month and 14 yr of age. Boys in general, possessed larger IPD than girls, however, the gender differences became significant (P≤0.05) at 10, 11, 16-18 and 22-24 months, respectively, and five and 10 yr of age, respectively.
INTERPRETATION & CONCLUSIONS
The results of this study suggest that the patients having IPD less than the 3 percentile should be treated as cases of hypotelorism while, those exceeding 97 percentile as cases of hypertelorism. The use of percentile grids presented for IPD may be used to detect ocular hypotelorism and hypertelorism in male and female children to corroborate diagnosis of different syndromes.
Topics: Child; Face; Female; Humans; Hypertelorism; India; Male; Pupil; Reference Values
PubMed: 36124511
DOI: 10.4103/ijmr.IJMR_758_20 -
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... Jun 2019Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis... (Review)
Review
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
Topics: DNA-Directed RNA Polymerases; Humans; Mandibulofacial Dysostosis; Neural Crest; Nuclear Proteins; Phosphoproteins
PubMed: 31218872
DOI: 10.7518/hxkq.2019.03.020 -
Eye (London, England) May 2022To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. (Review)
Review
OBJECTIVE
To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes.
METHODS
We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. The study's primary endpoint was the proportion of children achieving best-corrected visual acuity (BCVA) ≥ 6/12 in the better eye at final visit, as per UK driving standards.
RESULTS
165 patients were included in this study. Breakdown of diagnoses was as follows: Crouzon (n = 60), Apert (n = 57), Pfeiffer (n = 14) and Saethre-Chotzen (n = 34). 98 patients were male. Of 133 patients with full BCVA data available, 76.7% achieved BCVA ≥ 6/12 in the better eye. Of 122 patients, anisometropia >1.00 dioptre sphere (DS) affected 18.9% and astigmatism ≥1.00DS in at least one eye affected 67.2%. Of 246 eyes, 48.4% had oblique astigmatism. Of 165 patients, 60 had exotropia and 12 had esotropia. 48 of 99 patients demonstrated 'V' pattern. On multivariable logistic regression, nystagmus (p = 0.009) and ON involvement (p = 0.001) were associated with decreased vision in the worse eye. Normal VEPs were associated with better BCVA (p = 0.036).
CONCLUSION
There was a high prevalence of amblyogenic factors, however, the majority achieved BCVA ≥ 6/12 in their better eye. Optic neuropathy and nystagmus had the most significant impact on vision. VEPs can help the in overall assessment of visual function.
Topics: Acrocephalosyndactylia; Astigmatism; Child; Craniosynostoses; Evoked Potentials, Visual; Eye Diseases; Female; Humans; Male; Retrospective Studies
PubMed: 33972704
DOI: 10.1038/s41433-021-01458-5