Background
Guillotine amputations involve amputating an extremity with the wound left open, and are indicated in the setting of contamination. With lower extremity amputation, surgical options include below-knee amputation (BKA), through-knee amputation or knee disarticulation (KD), and above-knee amputation (AKA). BKAs preserve the knee joint and have been shown to have fewer complications and improved rehabilitation compared to KDs and AKAs. When BKAs are not feasible for a traumatic injury, an AKA is often chosen, due to difficulty or lack of understanding of KD surgery. While few RCTs have compared KDs to AKAs, they may be a viable alternative to AKAs.
Case Presentation
A 28-year-old male presented to the ED after being hit by a truck while on a motorcycle. Physical exam revealed severe injuries to the left lower extremity (LLE), including open tibia and fibula fractures, degloving of the associated soft tissue, obliteration of the anterior compartment of muscles, and a cool foot with no identifiable pulse. Radiographs revealed open, comminuted fractures of the left tibia and fibula. CTA of the LLE revealed abrupt cut-off of contrast at the level of the distal trifurcation of the popliteal artery, proximally in the tibia. 
The patient was urgently taken to the OR, where a guillotine amputation was performed through the knee joint (KD), due to the proximal nature of the fractures and level of vessel tear. KD was chosen over AKA in order to preserve the thigh musculature and therefore maximal function in this young, healthy patient. Three days later, he underwent irrigation and debridement of the LLE with wound closure. The patient was discharged home five days after wound closure, or eight days after admission. Three months out of surgery, the patient has done well with physical therapy and prosthetic usage; he will continue to be followed closely for rehabilitation and recovery. 
Discussion
Factors to be considered in the level of amputation include soft tissue viability for bone coverage, blood vessel viability, and wound contamination. When BKA is not possible, KD can offer an alternative to AKA. KDs present concerns of poor wound healing and stump breakdown, as well as increased risk of revision surgery. However, compared to ambulating on a normal leg, patients undergoing AKAs require 70% more energy expenditure. As compared to AKA, KD preserves the adductor muscles, leading to improved stability and reduced metabolic expenditure with ambulation. Therefore, KDs may result in improved rehabilitation and increased long-term functionality.


A Case of Traumatic Guillotine Knee Disarticulation

Background
Antiphospholipid syndrome (APS), a thrombo-inflammatory systemic autoimmune disease, refers to the presence of persistent procoagulatory antiphospholipid antibodies (APLA) in the setting of arterial/venous thrombosis and/or recurrent obstetric morbidity. Primary APS refers to disease manifestation in the absence of clinical or laboratory evidence of another disease. Secondary APS occurs in the presence of another autoimmune disorder, infection, drugs, or malignancy. APS is known to induce a hypercoagulable state which, in rare circumstances following surgical procedures, could present as acute upper limb ischemia. Successful limb salvage and revascularization requires a timely diagnosis and localization of the arterial occlusion.
Case Presentation
We present a case of a 40-year-old female, 10 days post breast implant surgery and reduction abdominoplasty, who developed arterial thrombosis of the right upper extremity and subsequently the right lower extremity. The patient has a 25-pack year smoking history. On her physical exam she had a cold, mottled, cyanotic right hand, thenar area, and thumb. The patient underwent multiple surgical procedures, including a thrombectomy with thrombolytic therapy for a right subclavian clot, subsequent arteriotomy for radial artery occlusion, a femoral and popliteal thrombectomy, and eventually multiple digital amputations, secondary to digital necrosis, with application of a groin flap. Following this procedure, she fell dehiscing the groin flap requiring three additional debridement procedures. Additional testing revealed positive ANA and lupus anticoagulants. She was subsequently diagnosed with antiphospholipid syndrome, explaining the cascade of thrombotic events.
Discussion
Taking into account patients' risk factors is essential in considering the diagnosis of APS. Timely recognition and diagnosis of APS is not only important to guide treatment and management, but also contributes to physicians’ understanding of the psychosocial impact of APS. The patient’s complications were not limited to physical manifestations, as there is a demonstrated psychosocial impact to the diagnosis of APS. This sequence of events contributed to her feelings of depression, which led to her pursuing psychiatric treatment. The large delay in finding the underlying cause of her symptoms certainly added to her anxiety and stress. Further demonstrating the need for consideration and further research investigating the psychiatric manifestations of APS, with an emphasis on depression. Additional considerations should be made regarding the timely diagnosis of APS in order to more aptly care for patients and limit the patients’ psychological toll.

A Case of Digital Gangrene in a Patient with Antiphospholipid Syndrome

Background 
Exosomes are extracellular vesicle (EV) nanocarriers responsible for delivering biologics including lipids, proteins, and nucleic acids. EVs are an attractive therapeutic weapon for delivering drugs and biologics to cells and tissues. Utilizing EVs for clinical applications is based on their low toxicity, ability to target to specific cells and tissues, and can be bioengineered to enhance their activities. Significant challenges remain before exosomes can be widely used in clinical settings. These include developing improved methods for purifying exosomes, enhancing the targeting of exosomes to diseased tissue, and boosting the efficiency of engineering exosomes for disease-specific applications. 
Exosomes need to be engineered in a more efficient way for broad therapeutic application. The lack of efficient intracellular bioengineering technologies to modify produced exosomes is a major obstacle to the widespread use of EVs for therapeutic applications. 
Advances in mammalian synthetic chromosome design and engineering offer a potential improvement in EV manufacturing. Our aim is to adopt the Artificial Chromosome Expression System (ACE System), an autonomous chromosome-based “circuit-board” designed to carry single or multiple copies of genes or DNA elements of interest for EV engineering.

Methods 
We have demonstrated that human miRNAs expressed from the ACE platform residing in a CHO-based cell line failed to process human miRNAs into CHO exosomes. This suggests that the processing of miRNAs from primary gene transcripts may be regulated in a species-specific manner. Thus, the ACE chromosome has been transferred into human HEK293 cells. Engineered miRNAs have been cloned downstream of a modified green fluorescent protein (AcGFP1) expressed from a doxycycline inducible promoter system retrofitted to contain ACE platform recombination system. 

Results 
Our results indicated that the ACE synthetic chromosome platform can be successfully engineered to express miRNAs as part of an initial doxycycline inducible AcGFP1 transcript. Furthermore, isolation of resulting EVs from the ACE engineered HEK293 cells indicated the presence of the expressed miRNAs. 

Conclusion 
From our work, we propose that the ACE synthetic platform has the potential to serve as a genetic circuit-board for modifying EVs of therapeutic value. In addition, the ACE synthetic chromosome is autonomous to the host cellular genome, i.e., non-integrating and non-mutagenic, thus would provide an increasing safety profile for using our developed synthetic chromosome technology in an ex vivo cellular therapy format. Future efforts will focus on enhancing the efficiency of our bioengineering approach for a specific disease indication.

The Engineering of Human Synthetic Chromosomes for Exosome-based Therapeutics

Background
X-linked Creatine Transporter Deficiency (CTD) is caused by pathogenic variants in SLC6A8 and is characterized by intellectual disability, behavioral / developmental disorders, and seizures. The SLC6A8 protein has critical roles in synthesis and distribution of creatine throughout the body. The central nervous system is especially reliant on SLC6A8 to allow creatine to cross the blood brain barrier. Cerebral creatine deficiency disorders are found in up to 2.6% of males with intellectual disability, but few female cases have been reported. Small cohorts have suggested that supplementation of creatine, arginine, and glycine can stop disease progression in males and improve symptoms in females with CTD, though only four females on this therapy have been reported in the medical literature. We offer a case of a female with a de novo pathogenic SLC6A8 variant who significantly improved with supplementation. 

Case Presentation
At time of diagnosis, the reported patient had weight loss, mild intellectual disability, attention deficit hyperactivity disorder, generalized anxiety disorder, and intermittent explosive disorder. Magnetic resonance spectroscopy (MRS) of the brain showed reduced creatine on all acquired spectra. Based on literature review of previously treated female patients, the reported patient was started on creatine-monohydrate at 200 mg/kg/day, L-arginine at 400 mg/kg/day, and L-glycine at 150 mg/kg/day. Within three weeks of starting supplementation, her caregiver reported that she was “doing better in almost every way.” She gained 5 kg and symptom improvement was also seen through her mood: she was sleeping through the night, was more alert during the day, and was showing more appropriate behaviors. After 8 months of supplementation, MRS showed improved creatine concentrations with normalizing semi-quantitative ratios with other brain metabolites. 

Discussion
Previous small cohort studies of male patients with SLC6A8 deficiency demonstrated neither improvement nor decline on treatment. One female supplemented only with creatine showed increased aggression and worsening of self-injurious behaviors. However, two female patients in the literature supplemented with dosages of creatine, arginine, and glycine demonstrated improvement in neuropsychiatric symptoms. The reported patient provides an additional example of a female who responded to supplementation. Females are thought to better respond to supplementation because they are presumed to have at least one partially functioning copy of the SLC6A8 transporter on their second X chromosome, while more severely impacted males are more likely to have no residual transporter function and do not respond to supplementation. Clinicians treating females with CTD should consider treatment with creatine, arginine, and glycine supplementation.

Arginine, Glycine, and Creatine Supplementation Improves Symptoms in a Female with SLC6A8 Creatine Transporter Deficiency

Background
Chromosome-level mutations play an essential role in the mechanisms behind speciation and disease. Analyzing massive genomic data to elucidate orthologous chromosome pairings between primate species is currently limited by computational constraints. Specifically, computational approaches have been limited by their inability to determine balanced chromosomal mutations rapidly, accurately, and cost-effectively. As the Alu family of transposable elements is widely conserved and prevalent (10%) among primate genomes, it is ideal for interspecies comparison and employed in our novel method. Our investigation employs unique, advanced data science techniques to classify orthologous chromosomes across primates, detect chromosomal inversions, and identify chromosomal translocations. We hypothesize that this unique approach will produce accurate results when compared to established literature, perform in less time relative to current methodologies, and be more cost-effective than its counterparts. 

Methods
We obtained and subsequently aligned Alu elements from 11 distinct primate species’ genomes on the University of California Santa Cruz’s Genome Table Browser. After computationally aggregating and statistically analyzing all primate Alu sequences, orthologous chromosome pairs were identified based on the highest frequency of homologous pairings across any two compared primate species. Using the orthologous chromosomes’ loci-specific pairing data, we detected statistically significant balanced inversions and translocations between species. 

Results
We successfully classified orthologous chromosomes between two primates with high z-scores (minimum z-score of 2.5 and maximum above 4), confirmed with previously published lists. Graphical representations of primate species, utilizing both subfamily-specific and all Alu elements, allowed for clear, statistically significant detection of chromosomal inversions, which were then validated with previously published genomic differences (10/10). Further loci-specific analysis identified every reported chromosomal translocation or change in orientation greater than 5 Mbp translocations (maximum p < 0.007 and regularly p < 1e–4). 

Conclusion
Our novel approach can be used to detect chromosomal abnormalities in primate genomes, making it a powerful tool for evolutionary and oncological research. Furthermore, it does so in a manner that is far less expensive, lengthy, and resource-intensive, while retaining the accuracy of chromosomal mutation detection. As primates serve as an important model organism for basic science research in various subspecialties of medicine, this approach could have a significant impact on numerous biomedical fields. Future investigations will explore specific data-size constraints in interspecies comparisons and the method’s applicability in detecting mutational patterns in diseases affecting humans and other primate species.

Primate Chromosomal Abnormalities Detection Through Selective Sampling Across Large-Scale Genomic Data

Background:​
Wilson Disease, also called hepatolenticular degeneration, is a rare autosomal recessive mutation of ATP7B, which links copper to ceruloplasmin for elimination. In symptomatic patients, unbound ceruloplasmin is degraded in the bloodstream and free copper deposits in tissues, notably the basal ganglia, kidneys, and cornea. Despite dietary management and copper chelation, it is progressive and incurable, so early identification is key.​
Case Presentation:​
A 68-year-old Caucasian male presented for increasing peripheral neuropathy, myelopathy, and Parkinsonism. Labs revealed serum ceruloplasmin of 5.7 mg/dL; serum copper of 22 ug/dL; normal urine copper. Neurology suggested liver biopsy but his team was reluctant to pursue Wilson given his age and lack of Keyser-Fleischer rings. A second opinion from external neurology suggested copper supplementation, suspecting Menke. A Rowan medical geneticist suggested utilizing 23&Me data for deeper investigation of the ATP7A and ATP7B genes. Visualization of this data through genomic servers showed poor coverage, with sequence gaps and potential mutations of uncertain significance in ATP7A and ATP7B possibly contributing to Menke or Wilson; two mutations in PANK2; and none in ceruloplasmin or other copper metabolic genes. These unsatisfactory 23&Me results prompted the patient to privately obtain 40x whole genome sequencing, which demonstrated a likely pathogenic ATP7B c.3243+1G>A variant, not previously reported, predicted to disrupt a consensus splice site, and a variant of unknown significance, ATP7B c3243+5G>A, previously reported within an intron in Wilson Disease patients. His liver biopsy was fibrosis-negative; quantitative liver tissue copper testing he requested from gastroenterology showed 402 mcg/g dry weight, roughly 8 times the normal level; 250 mcg is diagnostic. He therefore self-referred to the Seattle Children’s Hospital Wilson Disease Center of Excellence, where DAT scan showed decreased radiotracer uptake in right caudate and bilateral right greater than left putamina consistent with Wilson’s Disease or Parkinson’s. He worsened slightly on trientine, but plateaued on zinc. SynOne testing was positive for Parkinson's and moderately improved on carbidopa-levodopa. ​
Discussion:​
Despite being a retired physician living near one of 18 centers for this condition nationwide, he encountered many barriers to diagnosis, followup, and management. Overreliance on pathognomonic signs may have contributed to missing this case. This was the first patient at Rowan-Virtua medical genetics identified for specific testing and follow up based on consumer genetic testing. On 7/11/23, the ATP7B c3243+5G>A allele was reclassified as likely pathogenic. Increased copper accumulation is associated with Parkinsonism.

A Case in Verdigris: Late-Life Onset of Wilson Disease Identified by Genomic Data

Background: Wound dehiscence is a known postoperative complication but, in cervical spine surgery, it is rare and there is a lack of documented literature. This clinical vignette reports novel complications of wound dehiscence in a patient treated with spinous process ostectomies after posterior cervical surgeries.

Case Presentation
A 41-year-old male initially presented to the emergency department (ED) with a chief complaint of middle thoracic back pain, numbness and tingling in the T4 dermatome and bilateral lower extremity motor deficits. MRI showed T2-T3 discitis, osteomyelitis and a thoracic epidural abscess, central cord remodeling, and a paraspinal soft tissue abscess that measured 2.2 x 1.2 x 2.3 cm. The patient ultimately underwent a T2-T3 decompression with left pedicle subtraction, irrigation, and debridement (I&D) of the T2-T3 disc space, and C7-T5 posterior spinal fusion.
Following an uneventful postoperative course, at five months postoperatively the patient felt a tear over the incision and was found to have a full thickness wound dehiscence with protrusion of the spinous processes. 
The patient underwent operative intervention for resection of the spinous process, I&D, and approximation of the muscle tissue and fascia. The spinous processes of T4 and T5 that were visible were removed. Flaps were raised to allow for adequate coverage of scar and fascia. At the two-week follow-up, the incision showed positive signs of healing overall, although there was some blistering noted; the sutures remained in place for another week. The spinous process at the level above the incision (C6, C7, and T1) was more prominent postoperatively which were not prominent prior to surgery. One week later, sutures were removed, and the wound looked well healed overall despite some erythema.
Six weeks following the second surgery, the spinous process at C6, C7, and T1 had eroded through the skin. The patient was scheduled for resection of those spinous processes and a large paraspinal flap for wound coverage. At the two-week, one-month, and six-month follow-up visits, the incision looked well healed with no signs of dehiscence

Discussion
This clinical vignette documents the successful treatment of cervical wound dehiscence which is a rare postoperative complication of cervical spinal surgery. We believe that this clinical vignette demonstrates successful treatment of cervical wound dehiscence with notable prominence of spinous processes, a topic that is not well documented in the literature. This information is valuable as treatment strategies and research into cervical wound dehiscence are limited to a single case report.




Cervicothoracic Wound Dehiscence Following Internal Fixation of the Cervical and Thoracic Spine

Introduction : Glaucoma, a leading cause of irreversible blindness, presents a significant challenge in ophthalmology. While numerous treatment modalities exist, management becomes complex when patients exhibit intolerance to conventional treatments. This case highlights a patient with open angled glaucoma(AOG) who is unable to tolerate common glaucoma medications. 
Patient’s Main Concerns and Important Clinical Findings: A 79-year-old woman presents with a longstanding history of AOG, strongly influenced by her family history. The patient underwent significant obstacles due to intolerance to standard glaucoma eyedrops, including those that increase outflow (ie. Latanoprost) and aqueous suppressants for reduced inflow. 
Primary Diagnoses, Interventions, and Outcomes: The patient’s management involved multiple surgical interventions: two trabeculectomies were performed in the left eye (OS) in 1995 and 2006, with adjunctive 5-fluorouracil and mitomycin to inhibit fibroblast proliferation and increase the success rate of the surgery. Additionally, postoperative argon laser suture lysis was employed after both trabeculectomies to prevent hypotony. In the right eye (OD), the patient underwent argon laser trabeculoplasty in 2004, repeated as selective laser trabeculoplasty in 2007, and finally micropulse laser trabeculoplasty in 2009 and 2018. This series of procedures aimed to improve aqueous outflow through the trabecular meshwork. A trabeculectomy was also performed OD in 2018. As of the patient’s last examination on April 5, 2023, the patient’s vision was 20/80 OD and 20/500 OS, with intraocular pressures of 12 OD and 10 OS. Her visual fields showed stable superior and inferior loss, greater in OD than OS. 
Conclusion: This case illustrates the complexity of managing advanced glaucoma in patient’s intolerant to traditional medications. It highlights the necessity for personalized treatment strategies and the importance of building a supportive, ongoing relationship with patients dealing with lifelong diseases. Multiple surgeries may be required to control the disease, emphasizing the necessity for careful follow-up and dynamic treatment plans to preserve visual function. The case underscores the essence of ophthalmology - not just managing a disease, but guiding patients along a lifelong journey. 


Management Challenges in Advanced Open-Angle Glaucoma: A Case Report

Single cell RNA sequencing (scRNA-seq) can detect gene expression and its dynamics in groups of cells. Its application to time-series samples can thus identify temporal gene expression programs active in different cell types. However, current scRNA-seq analysis needs improvement with regards to low gene detection, low replicate count, and inflated statistics when using cells as individual sampling data points. To address these issues, we explore whether “metacells” can be used as “replicates” through time. Toward this, we applied the use of metacells to a time-series scRNA-seq dataset from PBMCs after SARS-Cov-2 infection, which were then used in maSigPro for quadratic regression to find significantly differentially expressed genes (DEGs) over time, followed by clustering analysis of the expression velocity trends. Results demonstrated that this strategy could overcome the limitation of 1-2 replicates, as it correctly identified the known ISG15 interferon response program in almost all PBMC cell types. Its application further led to the uncovering of additional gene expression programs that potentially modulate different levels of host response after infection.

Identifying cell type transcriptome changes in COVID-19 patient PBMCs using metacells

Abstract Title:
SLCO1B1*5 allele is associated with atorvastatin discontinuation and adverse muscle symptoms in the context of routine care

Background
SLCO1B1 genotype is known to influence patient adherence to statin therapy, in part by increasing the risk for statin-associated musculoskeletal symptoms (SAMS). For simvastatin specifically, the SLCO1B1*5 allele has previously been associated with SAMS. For atorvastatin, prior studies assessing the impact of SLCO1B1*5 on SAMS have yielded inconclusive findings, due to insufficient power.

Methods
This study quantifies the impact of SLCO1B1*5 on atorvastatin discontinuation and SAMS in a large observational cohort using electronic medical record (EMR) data from a single health care system.

Results
In the study cohort (n = 1,627 patients exposed to atorvastatin during the course of routine clinical care), 56% (n = 912 of 1,627 patients) discontinued atorvastatin, and 18% (n = 303 of 1,627 patients) developed SAMS. A univariate analysis revealed that SLCO1B1*5 increased the likelihood that patients would stop atorvastatin during routine care (Odds Ratio 1.2, 95% confidence interval [C.I.]: 1.1 - 1.5, p = 0.04). Further analyses using a multivariate Cox proportional hazards model demonstrated that this same variant was associated with time to atorvastatin discontinuation (Hazard Ratio 1.2, C.I. 1.1 - 1.4, p = 0.004). Additional time-to-event analyses also revealed that SCLO1B1*5 was associated with SAMS (Hazard Ratio 1.4, C.I. 1.1 - 1.7, p = 0.02).

Conclusion
Atorvastatin discontinuation was associated with SAMS (Odds Ratio 1.67, p = 0.0001) in this cohort. It is plausible that SLCO1B1-informed statin therapy with the aim of reducing muscle side effects may lead to improved adherence for this important class of drugs.

Genetic Variation in SLCO1B1 Increases Risk for Atorvastatin Muscle Side Effects

Background: Usher syndrome is the most common cause of deafness-blindness in the world. Usher syndrome type 1B (USH1B) is caused by mutations in MYO7A. Patients with USH1B experience deafness, blindness, and vestibular dysfunction. In this study, we applied dual AAV-mediated gene therapy to a mouse model of USH1B, the shaker-1 (Myo7a4626SB/4626SB) mouse. The shaker-1 mouse has a nonsense mutation in Myo7a. It is profoundly deaf throughout life, and it has significant vestibular dysfunction, similar to patients with USH1B. 

Methods: Neonatal (P0 to P5) shaker-1 (Myo7a4626SB/4626SB) mutant mice were used in this study. Due to the ~6.7 kb of the Myo7a cDNA, the dual AAV approach was used for gene delivery via the posterior semicircular canal. Auditory brainstem response (ABR) was used to assess auditory function. Vestibular evoked potential (VsEP) and circling behavior recording were used to assess vestibular function. Immunohistochemistry was used to evaluate viral transduction efficiency, sensory hair cell viability, and stereocilia morphology. 

Results: The shaker-1 mice are profoundly deaf due to significant stereocilia disorganization and rapidly progressive cochlear hair cell loss. Even though vestibular hair cells do not undergo degeneration in shaker-1 mice, they also exhibit significant vestibular dysfunction, due to stereocilia disorganization of the vestibular hair cells as well. When Myo7a cDNA was delivered to shaker-1 inner ears using the dual AAV approach, cochlear hair cell survival was improved. However, stereocilia organization and auditory function were not improved. In the vestibular system, dual AAV-mediated Myo7a delivery caused an improvement in stereocilia organization. In addition, the treated shaker-1 mice also had improved vestibular function, reflected by reduced circling behavior and improved VsEP thresholds. 

Conclusions: Our results showed that dual AAV gene therapy was able to improve the vestibular function in the shaker-1 mutant mice.

Medical Genetics and Genomics - Dual AAV-Mediated Gene Replacement Therapy Improves the Vestibular Function in a Mouse Model of USH1B - Medical Genetics and Genomics

Background: Familial Mediterranean fever (FMF) is a rare autosomal recessive, autoinflammatory disease that causes recurrent attacks of fever and acute inflammation in the body. Here we have a case of a clinically diagnosed FMF pt who has a monoallelic mutation of the MEFV gene. This case is unique as the specific monoallelic mutation found has not been reported to cause FMF on its own.

Case Presentation: 13 yo male presents with 2-year history of frequent fever occurring 2-4 times per week accompanied with feeling unwell. Fevers range from 100.5-101 F, resolve with Tylenol, and can occur with sore throat and abdominal pain. No chest pain, joint pain, or rashes present. Genetic testing and evaluation revealed pt is a heterozygous carrier of a pathogenic variant in the MEFV gene, c.2177T>C (p.Val726Ala). FHx of Ashkenazi Jewish ancestry and SLE on maternal side. Workup of UA, CRP/ESR, liver + BMP, and CBC were unremarkable. Diagnosed patient with FMF type I and started on colchicine trial of 0.9 mg daily which improved symptoms. Raised to 1.5 mg daily after pt tolerated trial and symptoms significantly improved. Clinical diagnosis for FMF based on Tel Hashomer Criteria and improvement of symptoms with colchicine trial.

Discussion: FMF is the most common of the known autoinflammatory diseases. The recessive gene for FMF, MEFV, is carried by Ashkenazi Jewish, Turkish, Arabian, Mediterranean, and Middle Eastern populations. This gene encodes pyrin, a protein thought to regulate inflammation through the IL-1 signaling pathway. Severe heterozygous mutations can sometimes cause FMF in a monoallelic form, but this patient’s specific mutation has previously not been found to cause FMF. This is a unique case which demonstrates a Val726Ala heterozygous mutation to cause clinically significant FMF. Also, this case provides an opportunity to demonstrate proper treatment for this patient presentation. 


Underline digital video library

A Case of Traumatic Guillotine Knee Disarticulation

A Case of Digital Gangrene in a Patient with Antiphospholipid Syndrome

The Engineering of Human Synthetic Chromosomes for Exosome-based Therapeutics

Arginine, Glycine, and Creatine Supplementation Improves Symptoms in a Female with SLC6A8 Creatine Transporter Deficiency

Primate Chromosomal Abnormalities Detection Through Selective Sampling Across Large-Scale Genomic Data

A Case in Verdigris: Late-Life Onset of Wilson Disease Identified by Genomic Data

Cervicothoracic Wound Dehiscence Following Internal Fixation of the Cervical and Thoracic Spine

Management Challenges in Advanced Open-Angle Glaucoma: A Case Report

Identifying cell type transcriptome changes in COVID-19 patient PBMCs using metacells

Genetic Variation in SLCO1B1 Increases Risk for Atorvastatin Muscle Side Effects

Medical Genetics and Genomics - Dual AAV-Mediated Gene Replacement Therapy Improves the Vestibular Function in a Mouse Model of USH1B - Medical Genetics and Genomics

A Unique Monoallelic Presentation of Familial Mediterranean Fever

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