Project description:EBV-associated smooth muscle tumors are found in immunocompromised patients, most commonly HIV/AIDS. We present a 12-year-old girl with the first documented case of EBV-related smooth muscle tumors in the presence of a rare classic NK cell deficiency. This sheds light on the role of NK cells in controlling EBV-related smooth muscle tumors.
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.
Project description:We investigated thumb joint stability and patient-reported and functional outcomes a minimum of 1 year after flexor digitorum superficialis opponensplasty and ligament reconstruction in 23 thumbs of 20 consecutive children with radial longitudinal deficiency. In total, 15 thumbs had preoperative multidirectional instability in the metacarpophalangeal joint. We reconstructed 22 ulnar and 16 radial collateral ligaments. At follow-up, all the metacarpophalangeal joints were stable ulnarly. Seven metacarpophalangeal joints were unstable radially despite ligament reconstruction but had no related complaints. We recommend the flexor digitorum superficialis opponensplasty as a safe and reliable procedure in hypoplastic thumbs to create stability and augment thumb strength.Level of evidence: IV.
Project description:The link between subthalamic nucleus deep brain stimulation (STN-DBS) and apathy in patients with Parkinson's disease (PD) remains a controversial topic. The literature is mixed and the most supported explanation is the reduction of dopaminergic treatment. Yet a body of clinical and experimental evidences suggest that STN-DBS itself can also promote apathy in certain patients. However, the parameters accounting for apathy heterogeneity in stimulated patients along with the mechanisms underlying apathy induced by STN-DBS remain to be investigated. Whether bilateral and unilateral STN-DBS have the same influence on apathy is for instance unknown. We previously and separately showed in patients and rodents that bilateral STN-DBS can promote apathy per se. Here, we compare the effect of bilateral versus unilateral STN-DBS both in patients and in rodents. We conducted a clinical follow-up of patients with Parkinson's disease undergoing unilateral or bilateral STN-DBS and assessing apathy 3 months before and after STN-DBS. In parallel, we applied chronic and uninterrupted unilateral or bilateral DBS in rodents and extract longitudinal motivational changes with a battery of behavioural tests. While bilateral STN-DBS promotes apathy in patients and induces a loss of motivation in rodents, we found that unilateral STN-DBS did not exert such an effect both in patients and in rats. These data show that bilateral but not unilateral STN-DBS promotes apathy. This not only substantiate the induction of neuropsychiatric effects by STN-DBS but also suggest that this might be circumvented if STN-DBS is applied unilaterally instead of bilaterally.
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.
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.
Project description:PurposeTo report a case of Light Adjustable Lens™ (LAL, RxSight, Aliso Viejo, CA) implantation in a patient with bilateral 50-cut radial keratotomy (RK) and discuss related preoperative, intraoperative, and postoperative considerations.MethodsA 78-year-old patient with history of bilateral 50-cut RK underwent phacoemulsification with implantation of LALs in both eyes one month apart. Although LAL technology was not approved specifically for addressing limitations in intraocular lens calculation post-RK due to corneal topography irregularity, the patient opted for this lens due to its ability to make post-operative adjustments to its refractive power. At postoperative month one following the second eye surgery, YAG capsulotomy was performed in both eyes. At postoperative month two following the second eye surgery, the patient began LAL adjustments spaced 1-2 weeks apart for a total of 2 LAL adjustments and 2 lock-in sessions.ResultsOur patient achieved a final refraction of -0.25 +0.25 × 110 with an UDVA of 20/20-2 in the right eye and -0.25 +0.50 × 135 with an UDVA 20/25-1 in the left eye.ConclusionsThe LAL may be a promising option for patients undergoing cataract surgery after RK, although further studies are needed to understand long-term changes in eyes with RK and the inability of LAL to address all aspects of corneal aberration.
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.