A differently-abled child with bilateral congenital radial longitudinal deficiency
Ontology highlight
ABSTRACT:
SUBMITTER: Swarnakar R
PROVIDER: S-EPMC8257244 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background:Apert, Pfeiffer, and Crouzon syndromes are autosomal dominant diseases characterized by craniosynostosis. They are paternal age effect disorders. The association between paternal age and Beare-Stevenson syndrome (BSS), a very rare and severe craniosynostosis, is uncertain. Gain-of-function mutations in FGFR2 become progressively enriched in testes as men age and were shown to cause these syndromes. Case report:Here, we describe a child affected with BSS, whose father was 36 years old and had congenital bilateral absence of the vas deferens (CBAVD). The child was heterozygous for the pathogenic FGFR2 variant c.1124A > G p.Tyr375Cys. By reviewing the literature, we found that BSS fathers are older than BSS mothers (mean age in years: 39 ± 10 vs 30 ± 6, p = 0.006). Male age greater than 34 years and CBAVD are both factors associated with poor spermogram parameters, which may represent an additional selective pressure to sperm carrying FGFR2 gain-of-function mutations. Conclusion:These findings are consistent with the hypothesis that BSS is a paternal-origin genetic disorder. Further experimental studies would be needed to confirm this hypothesis.
| S-EPMC7052335 | biostudies-literature
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| S-EPMC8095040 | biostudies-literature
Project description:BackgroundThe radial artery is used for the access of coronary angiography and percutaneous coronary intervention, as well as for coronary artery bypass surgery. Variations of upper limb arteries are common, however, congenital absence of radial artery is scarce, and most cases were unilateral radial artery absence.Case presentationDuring a coronary angiography of a 43-year-old man, we encountered a very rare bilateral congenital absence of the radial artery. For both arms, the radial arteries were not observed and the ulnar arteries were small in size, while anterior interosseous arteries were found to be the dominant artery. Coronary angiography and percutaneous coronary intervention were performed via the brachial artery since transradial percutaneous coronary intervention failed.ConclusionThe highlight of this case is that it could be the first case to be reported with bilateral absence of radial artery in adults.
| S-EPMC4000061 | biostudies-literature
Project description:The evolution of bilaterally symmetric feathers is a fundamental process leading toward flight. One major unsolved mystery is how the feathers of a single bird can form radially symmetric downy feathers and bilaterally symmetric flight feathers. In developing downy feather follicles, barb ridges are organized parallel to the long axis of the feather follicle. In developing flight-feather follicles, the barb ridges are organized helically toward the anterior region, leading to the fusion and creation of a rachis. Here we discover an anterior-posterior molecular gradient of wingless int (Wnt3)a in flight but not downy feathers. Global inhibition of the Wnt gradient transforms bilaterally symmetric feathers into radially symmetric feathers. Production of an ectopic local Wnt3a gradient reoriented barb ridges toward the source and created an ectopic rachis. We further show that the orientation of the Wnt3a gradient is dictated by the dermal papilla (DP). Swapping DPs between wing covert and breast downy feathers demonstrates that both feather symmetry and molecular gradients are in accord with the origin of the DP. Thus the fates of feather epidermal cells are not predetermined through some molecular codes but can be modulated. Together, our data suggest feathers are shaped by a DP--> Wnt gradient-->helical barb ridge organization-->creation of rachis-->bilateral symmetry sequence. We speculate diverse feather forms can be achieved by adjusting the orientation and slope of molecular gradients, which then shape the topological arrangements of feather epithelia, thus linking molecular activities to organ forms and novel functions.
| S-EPMC1347975 | biostudies-literature
Project description:Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks' gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.
| S-EPMC3557612 | biostudies-literature
Project description:PurposeIt is unclear if a second or third arterial graft can improve clinical outcomes in coronary artery bypass graft surgery. We compared the outcomes of bilateral internal thoracic artery (BITA) plus radial artery (RA) grafting versus left internal thoracic artery (LITA) plus RA grafting after off-pump coronary artery bypass grafting.Materials and methodsBetween January 2009 and December 2020, a total of 3007 patients with three-vessel coronary artery disease who underwent off-pump coronary artery bypass were analyzed. Among them, 971 patients received total arterial grafting using LITA. We divided the patients into two groups [group A, BITA+RA grafting (n=227) and group B, LITA+RA grafting (n=744)], and compared the survival and major adverse cardiac and cerebrovascular event (MACCE) rates between the two groups at 10 years.ResultsAfter risk adjustment with inverse probability treatment weighting methods, the freedom from all-cause mortality was 93.1% and 88.3% in groups A and B, respectively (p=0.140). The freedom from MACCE rates were 68.3% and 89.0%, respectively (p<0.0001). LITA plus RA grafting [hazard ratio (HR): 1.3, 95% confidence interval (CI): 1.05-2.37, p=0.025] and incomplete revascularization (HR 1.2, 95% CI: 0.70-2.15, p=0.046) were significant risk factors for MACCEs in multivariable Cox regression analysis.ConclusionThe rates of MACCEs were lower with LITA plus RA grafting than with BITA plus RA grafting in total arterial revascularization. Furthermore, complete revascularization improved long-term outcomes following total arterial grafting.
| S-EPMC10375247 | biostudies-literature
Project description:PurposeTo report a case of severe bilateral descemetoceles in a patient with alpha-1 antitrypsin (A1AT) deficiency during intensive care unit hospitalization.ObservationsA 42-year-old male presented with sub-acute bilateral vision loss during an intensive care unit hospitalization following liver and kidney transplantations. On exam, this patient's best-corrected visual acuity was 20/80 in both eyes. There were bilateral descemetoceles inferotemporally in both eyes with overlying epithelial defects and dense surrounding punctate epithelial staining. The patient was initially treated with gatifloxacin drops and frequent lubricating ointment. Given the concern for impending perforation, cyanoacrylate glue with bandage contact lens was applied to both eyes. His best corrected visual acuity remained unchanged in the right eye and improved to 20/30 in the left eye. Upon medical stabilization, anterior lamellar graft was performed in the right eye, with plans for the same treatment in the left eye in the future.ConclusionsAs A1AT is found in the tear film and is believed to play a role in regulating protease activity in the cornea, we hypothesize that this patient's A1AT deficiency exacerbated the progression of corneal ulceration leading to severe descemetocele formation.
| S-EPMC6639587 | biostudies-literature
Project description:Background Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH. Case presentation A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. A marker chromosome was detected by amniocentesis. Fluorescence in situ hybridization with whole chromosome paint 5 and nucleolus organizer region probes confirmed its origin from chromosome 5 and an acrocentric chromosome. The karyotype of the fetus was diagnosed as 47, XY, +mar. ish +mar(WCP5+). At 39 + 5 weeks, a 2462 g male infant was delivered, with a specific facial configuration. Bilateral CDH, hypoplasia of the corpus callosum, atrial septal defect, and hypothyroidism were also detected in the baby. The karyotype of the peripheral blood was consistent with that of the amniocentesis. Conclusion Genes coded on 5p might be associated with the pathogenesis of CDH; however, further investigation is required.
| S-EPMC7945345 | biostudies-literature