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Journal of Clinical Medicine Jun 2024Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age,...
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating-Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.
PubMed: 38929963
DOI: 10.3390/jcm13123435 -
Life (Basel, Switzerland) Jun 2024Traditional anatomy-based penile venous surgery is deemed inadequate. Based on revolutionary insights into penile vasculature, penile venous stripping (PVS) shows...
INTRODUCTION
Traditional anatomy-based penile venous surgery is deemed inadequate. Based on revolutionary insights into penile vasculature, penile venous stripping (PVS) shows promise in treating adolescent erectile dysfunction (AED). We aimed to report on this novel approach.
METHODS
We conducted a retrospective analysis of 223 individuals under 30 diagnosed with veno-occlusive dysfunction (VOD) between 2009 and 2023. Among them, 83 were diagnosed with AED and divided into the PVS ( = 37) and no-surgery (NS, = 46) groups. All participants had been dissatisfied with conventional therapeutic options. Dual pharmaco-cavernosography was the primary diagnostic modality. PVS involved stripping the deep dorsal vein and two cavernosal veins after securing each emissary's vein with a 6-0 nylon suture. Erection restoration was accessed using the abridged five-item version of the International Index of Erectile Function (IIEF-5) score system and the erection hardness scale (EHS). Statistical analysis was performed using IBM SPSS 21.0.
RESULTS
There were significant differences (both < 0.001) between the preoperative and postoperative IIEF-5 scores in the PVS and NS groups (9.8 ± 3.0 vs. 20.4 ± 2.2; 9.9 ± 2.5 vs. 9.5 ± 2.1), as well as in the EHS scores (1.7 ± 0.7 vs. 3.5 ± 0.6 and 1.8 ± 0.5 vs. 1.3 ± 0.4). The satisfaction rate was 87.9% (29/33) in the PVS group and 16.7% (17/41) in the NS group.
CONCLUSIONS
AED can be effectively treated using physiological methods, although larger patient cohorts are needed for validation.
PubMed: 38929745
DOI: 10.3390/life14060762 -
Medicina (Kaunas, Lithuania) Jun 2024: This study aimed to investigate the relationship between neuropathic pain and CREB-binding protein (CBP) and methyl-CpG-binding protein 2 (MeCP2) expression levels in...
: This study aimed to investigate the relationship between neuropathic pain and CREB-binding protein (CBP) and methyl-CpG-binding protein 2 (MeCP2) expression levels in a rat model with spared nerve injury (SNI). : Rat (male Sprague-Dawley white rats) models with surgical SNI (n = 6) were prepared, and naive rats (n = 5) were used as controls. The expression levels of CBP and MeCP2 in the spinal cord and dorsal root ganglion (DRG) were compared through immunohistochemistry at 7 and 14 days after surgery. The relationship between neuropathic pain and CBP/MeCP2 was also analyzed through intrathecal siRNA administration. : SNI induced a significant increase in the number of CBPs in L4 compared with contralateral DRG as well as with naive rats. The number of MeCP2 cells in the dorsal horn on the ipsilateral side decreased significantly compared with the contralateral dorsal horn and the control group. SNI induced a significant decrease in the number of MeCP2 neurons in the L4 ipsilateral DRG compared with the contralateral DRG and naive rats. The intrathecal injection of CBP siRNA significantly inhibited mechanical allodynia induced by SNI compared with non-targeting siRNA treatment. MeCP2 siRNA injection showed no significant effect on mechanical allodynia. : The results suggest that CBP and MeCP2 may play an important role in the generation of neuropathic pain following peripheral nerve injury.
Topics: Animals; Rats, Sprague-Dawley; Methyl-CpG-Binding Protein 2; Neuralgia; Male; Rats; Disease Models, Animal; CREB-Binding Protein; Ganglia, Spinal; RNA, Small Interfering; Peripheral Nerve Injuries; Spinal Cord; Immunohistochemistry
PubMed: 38929606
DOI: 10.3390/medicina60060989 -
Animals : An Open Access Journal From... Jun 2024The skin of bony fish is the first physical barrier and is responsible for maintaining the integrity of the fish. Lesions make the skin vulnerable to potential infection...
The skin of bony fish is the first physical barrier and is responsible for maintaining the integrity of the fish. Lesions make the skin vulnerable to potential infection by pathogens present in the aquatic environment. In this way, wound repair has barely been studied in gilthead sea bream. Thus, this study investigated the modulation of peripheral neuro-endocrine and tissue repair markers at the transcriptional level in the skin of teleost fish subjected to mechanical damage above or below the lateral line (dorsal and ventral lesions, respectively). Samples were evaluated using RT-qPCR at 2-, 4-, and 20-days post-injury. Fish with a ventral lesion presented a trend of progressive increase in the expressions of (), (), (), (), (), (), and (less pronounced) (). By contrast, fish with a dorsal lesion registered no significant increase or biological trend for the genes evaluated at the different sampling times. Collectively, the results show a rapid and more robust response of neuro-endocrine and tissue repair markers in the injuries below than above the lateral line, which could be attributable to their proximity to vital organs.
PubMed: 38929434
DOI: 10.3390/ani14121815 -
Animals : An Open Access Journal From... Jun 2024This study evaluates the change in an MRI of the proximal metacarpal region in a group of sport horses that returned to work. This retrospective analysis evaluated 18...
BACKGROUND
This study evaluates the change in an MRI of the proximal metacarpal region in a group of sport horses that returned to work. This retrospective analysis evaluated 18 limbs represented by 17 horses.
RESULTS
The hyperintense signal within the dorsal collagenous part of the proximal suspensory ligament (PSL) on T1W/T2*W GRE sequences decreased or stayed the same in the majority of cases. The hyperintense STIR signal within the dorsal collagenous part of the PSL resolved in the majority of the patients, and the third metacarpal bone (McIII) hyperintense STIR signal resolved in all patients. The dorsal margin irregularity of the PSL stayed the same, and McIII sclerosis and resorption of the palmar margin of McIII stayed the same in the majority of cases. McIII hyperintense STIR signal resolution carries a broad time range, with a mean of 94 days and a range of 47-202 days.
CONCLUSIONS
Complete normalization of the dorsal collagenous part of the PSL does not appear necessary for a return to soundness, but a resolution of the McIII hyperintense STIR signal is expected for horses returning to soundness. A rescan period of 120 days for the proximal metacarpal region is suggested. In addition, there was no significant change in the size of the PSL between the initial and final MRI.
PubMed: 38929351
DOI: 10.3390/ani14121731 -
Diagnostics (Basel, Switzerland) Jun 2024During routine dissections of cadavers as part of the medical curriculum, we identified a rare unilateral variation in the brachial plexus on the right side of a female...
During routine dissections of cadavers as part of the medical curriculum, we identified a rare unilateral variation in the brachial plexus on the right side of a female body donor. This variation consisted of four unusual changes to the regular pattering of nerve bundles and the dorsal scapular artery permeating the complex neural network. The variation included contributions of root C4 to the plexus by a root C4/C5 anastomosis, a rare fusion of the superior and middle trunks to a 'superomiddle' trunk, a preliminary, proximal branching of the suprascapular nerve off the C5 root. We further observed an accessory 'medial anterior division' branching off the fused upper and middle trunks merging with the anterior division of the inferior trunk forming the medial cord. The latter event potentially introduced nerve fibers from C5 to C7, which are absent in common patterns. We aim to relate these observations to previous categorizations and quantifications of brachial plexus patterns. We believe that the combination of different variations in this case resulted in a unique pattern. Since this observation was made in the dissection class, we further aim to raise awareness among medical students and anatomical instructors for the likelihood of variations to textbook patterns. This will hopefully foster an appreciation of uniqueness and individuality in the interaction with future patients demonstrating that proper preparation prior to surgical interventions is always a necessary prerequisite.
PubMed: 38928654
DOI: 10.3390/diagnostics14121239 -
Brain Sciences Jun 2024Neuropathic pain arises from injuries to the nervous system in diseases such as diabetes, infections, toxicity, and traumas. The underlying mechanism of neuropathic pain... (Review)
Review
Neuropathic pain arises from injuries to the nervous system in diseases such as diabetes, infections, toxicity, and traumas. The underlying mechanism of neuropathic pain involves peripheral and central pathological modifications. Peripheral mechanisms entail nerve damage, leading to neuronal hypersensitivity and ectopic action potentials. Central sensitization involves a neuropathological process with increased responsiveness of the nociceptive neurons in the central nervous system (CNS) to their normal or subthreshold input due to persistent stimuli, leading to sustained electrical discharge, synaptic plasticity, and aberrant processing in the CNS. Current treatments, both pharmacological and non-pharmacological, aim to alleviate symptoms but often face challenges due to the complexity of neuropathic pain. Neuromodulation is emerging as an important therapeutic approach for the treatment of neuropathic pain in patients unresponsive to common therapies, by promoting the normalization of neuronal and/or glial activity and by targeting cerebral cortical regions, spinal cord, dorsal root ganglia, and nerve endings. Having a better understanding of the efficacy, adverse events and applicability of neuromodulation through pre-clinical studies is of great importance. Unveiling the mechanisms and characteristics of neuromodulation to manage neuropathic pain is essential to understand how to use it. In the present article, we review the current understanding supporting dorsal root ganglia and spinal cord neuromodulation as a therapeutic approach for neuropathic pain.
PubMed: 38928589
DOI: 10.3390/brainsci14060589 -
Tau Protein Accumulation Trajectory-Based Brain Age Prediction in the Alzheimer's Disease Continuum.Brain Sciences Jun 2024Clinical cognitive advancement within the Alzheimer's disease (AD) continuum is intimately connected with sustained accumulation of tau protein pathology. The biological...
Clinical cognitive advancement within the Alzheimer's disease (AD) continuum is intimately connected with sustained accumulation of tau protein pathology. The biological brain age and its gap show great potential for pathological risk and disease severity. In the present study, we applied multivariable linear support vector regression to train a normative brain age prediction model using tau brain images. We further assessed the predicted biological brain age and its gap for patients within the AD continuum. In the AD continuum, evaluated pathologic tau binding was found in the inferior temporal, parietal-temporal junction, precuneus/posterior cingulate, dorsal frontal, occipital, and inferior-medial temporal cortices. The biological brain age gaps of patients within the AD continuum were notably higher than those of the normal controls ( < 0.0001). Significant positive correlations were observed between the brain age gap and global tau protein accumulation levels for mild cognitive impairment ( = 0.726, < 0.001), AD ( = 0.845, < 0.001), and AD continuum ( = 0.797, < 0.001). The pathologic tau-based age gap was significantly linked to neuropsychological scores. The proposed pathologic tau-based biological brain age model could track the tau protein accumulation trajectory of cognitive impairment and further provide a comprehensive quantification index for the tau accumulation risk.
PubMed: 38928575
DOI: 10.3390/brainsci14060575 -
International Journal of Molecular... Jun 2024The present study examined how P2X7 receptor knockout (KO) modulates central post-stroke pain (CPSP) induced by lesions of the ventrobasal complex (VBC) of the thalamus...
The present study examined how P2X7 receptor knockout (KO) modulates central post-stroke pain (CPSP) induced by lesions of the ventrobasal complex (VBC) of the thalamus in behaviors, molecular levels, and electrical recording tests. Following the experimental procedure, the wild-type and P2X7 receptor KO mice were injected with 10 mU/0.2 μL type IV collagenase in the VBC of the thalamus to induce an animal model of stroke-like thalamic hemorrhage. Behavioral data showed that the CPSP group induced thermal and mechanical pain. The P2X7 receptor KO group showed reduced thermal and mechanical pain responses compared to the CPSP group. Molecular assessments revealed that the CPSP group had lower expression of NeuN and KCC2 and higher expression of GFAP, IBA1, and BDNF. The P2X7 KO group showed lower expression of GFAP, IBA1, and BDNF but nonsignificant differences in KCC2 expression than the CPSP group. The expression of NKCC1, GABAa receptor, and TrkB did not differ significantly between the control, CPSP, and P2X7 receptor KO groups. Muscimol, a GABAa agonist, application increased multiunit numbers for monitoring many neurons and [Cl] outflux in the cytosol in the CPSP group, while P2X7 receptor KO reduced multiunit activity and increased [Cl] influx compared to the CPSP group. P2X4 receptor expression was significantly decreased in the 100 kDa but not the 50 kDa site in the P2X7 receptor KO group. Altogether, the P2X7 hypothesis of CPSP was proposed, wherein P2X7 receptor KO altered the CPSP pain responses, numbers of astrocytes and microglia, CSD amplitude of the anterior cingulate cortex and the medial dorsal thalamus, BDNF expression, [Cl] influx, and P2X4 expression in 100 kDa with P2X7 receptors. The present findings have implications for the clinical treatment of CPSP symptoms.
Topics: Animals; Receptors, Purinergic P2X7; Mice; Mice, Knockout; Stroke; K Cl- Cotransporters; Male; Pain; Disease Models, Animal; Brain-Derived Neurotrophic Factor; Symporters; Mice, Inbred C57BL; Neurons; Muscimol; Glial Fibrillary Acidic Protein; Thalamus
PubMed: 38928280
DOI: 10.3390/ijms25126577 -
Bioengineering (Basel, Switzerland) Jun 2024Urinary tract diseases are common in cats, and often require surgical reconstruction. Here, to explore the possibility of urinary tract reconstruction in cats using...
Urinary tract diseases are common in cats, and often require surgical reconstruction. Here, to explore the possibility of urinary tract reconstruction in cats using in-body tissue architecture (iBTA), biosheets fabricated using iBTA technology were implanted into the feline bladder and the regeneration process was histologically evaluated. The biosheets were prepared by embedding molds into the dorsal subcutaneous pouches of six cats for 2 months. A section of the bladder wall was removed, and the biosheets were sutured to the excision site. After 1 and 3 months of implantation, the biosheets were harvested and evaluated histologically. Implantable biosheets were formed with a success rate of 67%. There were no major complications following implantation, including tissue rejection, severe inflammation, or infection. Urinary incontinence was also not observed. Histological evaluation revealed the bladder lumen was almost entirely covered by urothelium after 1 month, with myofibroblast infiltration into the biosheets. After 3 months, the urothelium became multilayered, and mature myocytes and nerve fibers were observed at the implantation site. In conclusion, this study showed that tissue reconstruction using iBTA can be applied to cats, and that biosheets have the potential to be useful in both the structural and functional regeneration of the feline urinary tract.
PubMed: 38927851
DOI: 10.3390/bioengineering11060615