A case of post-renal acute kidney injury caused by bilateral ureterolithiasis.

Key Clinical Message: Bilateral ureterolithiasis is rare but can cause acute kidney injury (AKI). Clinicians should first examine for post-renal causes of AKI, even if the patient lacks subjective symptoms. Abstract: This letter describes a case of bilateral ureterolithiasis which presented with post-renal acute kidney injury (AKI) and was successfully treated by bilateral retrograde ureteric stenting. Clinicians should be aware of post-renal AKI caused by bilateral ureterolithiasis when acute worsening of renal function with oliguria is observed.

Untypical bilateral breast cancer with peritoneal fibrosis on 18F-FDG PET/CT: case report and literature review.

Background: Retroperitoneal fibrosis, a condition of uncertain origin, is rarely linked to 8% of malignant cases, including breast, lung, gastrointestinal, genitourinary, thyroid, and carcinoid. The mechanism leading to peritoneal fibrosis induced by tumors is not well understood, possibly encompassing direct infiltration of neoplastic cells or the initiation of inflammatory responses prompted by cytokines released by tumor cells. We report a case of breast cancer with renal metastasis and retroperitoneal fibrosis detected using 18F-FDG PET/CT, providing help for clinical diagnosis and treatment. Case report: A 49-year-old woman was referred to the hospital with elevated creatinine and oliguria for over a month. Abdominal computer tomography (CT) and magnetic resonance imaging (MRI) showed a retroperitoneal fibrosis-induced acute kidney injury (AKI) was suspected. However, a percutaneous biopsy of the kidney lesion confirmed metastasis from breast cancer. The physical examination revealed inverted nipples and an orange peel appearance on the skin of both breasts. Ultrasonography revealed bilateral hyperplasia (BIRADS 4a) of the mammary glands and bilateral neck and axillary lymphadenopathy. Subsequently, 18F-deoxyglucose positron emission tomography/computer tomography (18F-FDG PET/CT) detected abnormally high uptake (SUVmax) in the bilateral mammary glands and axillary lymph nodes, suggesting bilateral breast cancer. Furthermore, abnormal 18F-FDG uptake was detected in the kidney, suggesting renal metastasis. In addition, abnormal 18F-FDG uptake was observed in the vertebrae, accompanied by an elevation in inhomogeneous bone mineral density, raising suspicion of bone metastases. However, the possibility of myelodysplasia cannot be dismissed, and further investigations will be conducted during close follow-ups. There was significant 18F-FDG uptake in the retroperitoneal position indicating a potential association between retroperitoneal fibrosis and breast cancer. The final pathological diagnosis of the breast tissue confirmed bilateral invasive ductal carcinoma. The patient had been treated with 11 cycles of albumin-bound (nab)-paclitaxel (0.3 mg) and had no significant adverse reaction. Conclusion: In this case, neither the bilateral breast cancer nor the kidney metastatic lesion showed typical nodules or masses, so breast ultrasound, abdominal CT, and MRI did not suggest malignant lesions. PET/CT played an important role in detecting occult metastases and primary lesions, thereby contributing to more accurate staging, monitoring treatment responses, and prediction of prognosis in breast cancer.

Seronegative Bilateral Pulmonary Hydatid Cysts in a 15-Year-Old Boy From Pakistan: Report of a Rare Case.

Hydatid disease, attributed to the tapeworm Echinococcus granulosus, poses a significant health threat in regions where it is endemic. Here, we present a case involving a 15-year-old boy from rural Pakistan who initially sought medical attention due to a persistent cough and hemoptysis. Despite initially testing negative for serological markers, imaging studies revealed well-defined cysts in both lungs. Confirmation of the diagnosis was achieved through histopathological examination. Management includes albendazole therapy and surgical excision of the cyst. Our case underscores the diagnostic challenges associated with seronegative cases and underscores the importance of considering hydatid disease in endemic regions, irrespective of typical serological markers. This report enhances understanding regarding the clinical presentation, diagnostic approach, and management strategies for pulmonary hydatid cysts.

A case of bilateral vertebral artery dissection treated by bilateral surgical occlusion and low-flow bypass.

Background: Bilateral vertebral artery dissection aneurysm (VADA) is a rare condition that leads to severe stroke. However, the surgical strategy for its treatment is controversial because the pathology is very complicated and varies in each case. Here, we report a case of bilateral VADA that was successfully treated with staged bilateral VADA occlusion and low-flow bypass. Case Description: A Japanese man in his 40s presented with bilateral VADA with subarachnoid hemorrhage. He had only mild headaches without any other neurological deficits. Subsequently, the ruptured left VADA was surgically trapped. However, on postoperative day 11, the contralateral VADA enlarged. The right VADA was then proximally clipped via a lateral suboccipital approach. Furthermore, a superficial temporal artery-superior cerebellar artery bypass was performed through a subtemporal approach in advance to preserve cerebral flow in the posterior circulation. The bilateral VADA was obliterated, and the patient had an uneventful postoperative course during the 1-year and 6-month follow-up period. Conclusion: Bilateral VADA can be successfully treated with staged bilateral VADA obstruction and low-flow bypass. In this case, as the posterior communicating arteries were the fetal type and the precommunicating segments of the posterior cerebral arteries (P1) were hypoplastic, a low-flow bypass was used to supply the basilar and cerebellar arteries, except the posterior cerebral and posterior inferior cerebellar arteries. Furthermore, low-flow bypass is a less invasive option than high-flow bypass.

Antibiotic-loaded bone cement fixation technique combined with bilateral pectoralis major muscle flaps tension-free management for sternal infection after midline sternotomy.

INTRODUCTION: Deep sternal wound infection (DSWI) after midline sternotomy of cardiac surgery is a challenging complication that affects the outcome of surgery. This study aims to assess the clinical effectiveness of the antibiotic-loaded bone cement fixation technique combined with bilateral pectoralis major muscle flaps tension-free management in the treatment of DSWI. METHODS: We retrospectively analyzed 5 patients with DSWI who underwent antibiotic-loaded bone cement combined with bilateral pectoralis major muscle flaps for chest wall reconstruction after sternotomy for cardiac surgery in a tertiary hospital in China from January 2020 to December 2021. The clinical and follow-up data were retrospectively analyzed. RESULTS: All patients had no perioperative mortalities, no postoperative complications, 100% wound healing, and an average hospital stay length of 24 days. The follow-up periods were from 6 to 35 months (mean 19.6 months). None of the cases showed wound problems after initial reconstruction using antibiotic-loaded bone cement combined with bilateral pectoralis major muscle flaps. CONCLUSIONS: We report our successful treatment of DSWI, using antibiotic-loaded bone cement fixation technique combined with bilateral pectoralis major muscle flaps tension-free management. The clinical and follow-up results are favorable.

The interval between staged bilateral total knee arthroplasties does not affect early complications of the second knee or long-term function of the first and second knees.

BACKGROUND: This study explored the optimal time interval between staged bilateral total knee arthroplasty (BTKA) to minimize early complications of the second TKA and maximise the long-term function of the first and second knees. METHODS: We retrospectively reviewed 266 patients who underwent staged BTKA between 2013 and 2018. Groups 1-4 had time intervals between BTKAs of 1-6, 6-12, 12-18, and 18-24 months, respectively. Demographics, postoperative complications within 90 days of the second TKA, Knee Society Score (KSS), and Western Ontario and McMaster Universities Arthritis Index (WOMAC) score were compared among the groups. RESULTS: In total, 54, 96, 75, and 41 patients were assigned to groups 1-4, respectively. Although group 1 had the highest overall complication rate (11.11%), there was no significant difference in the complication rate among the four groups. Also, no significant differences were found among the four groups in functional and patient-reported outcomes, in either the first or second knee at 5 years postoperatively, including KSS-knee, KSS-function, WOMAC-pain, WOMAC-stiffness, and WOMAC-physical function. The interval between BTKA did not influence complications or the function of the second knee. The TKA type (posterior-stabilised vs. medial-pivot) and age did not correlate significantly with any scores. CONCLUSIONS: There was no group difference in early complications of the second TKA, and postoperative function was equivalent between the two knees and did not vary by the interval between surgeries. The results of this study give surgeons and patients more choices. If patients cannot tolerate severe symptoms in the contralateral knee after the first TKA, the second TKA should be performed as early as possible. If knee joint function is not well recovered after the first TKA, and patients are anxious to undergo the second TKA, surgeons can advise patients to postpone the operation based on these results.

Bilateral abducens and facial nerve palsies following fourth ventriculoperitoneal shunt with laparoscopic-assisted abdominal catheter placement.

Introduction: Hydrocephalus, altering cerebrospinal fluid (CSF) dynamics, affects 175 per 100,000 adults worldwide. Ventriculoperitoneal shunts (VPS) manage symptomatic hydrocephalus, with 125,000 cases annually. Despite efficacy, VPS face complications, necessitating interventions. Research question: "What are the mechanisms and risk factors for bilateral VIth and VIIth lower motor neuron palsies in hydrocephalus patients with a fourth ventriculoperitoneal shunt?" Material and methods: This study details a 36-year-old female with a neonatal meningitis history, multiple shunt replacements, admitted for abdominal pain secondary to pelvic inflammatory disease. An abdominal shunt catheter removal and external ventricular drain placement occurred after consultation with a general surgeon. A cardiac atrial approach and subsequent laparoscopic abdominal approach were performed without complications. Results: After one month, the patient showed neurological complications, including decreased facial expression, gait instability, and bilateral VIth and VIIth lower motor neuron palsies, specifically upgazed and convergence restriction. Discussion: The complication's pathophysiology is discussed, attributing it to potential brainstem herniation from over-drainage of CSF. Literature suggests flexible endoscopic treatments like aqueductoplasty/transaqueductal approaches into the fourth ventricle. Conclusions: This study underscores the need for increased awareness in monitoring neurological outcomes after the fourth ventriculoperitoneal shunt, particularly in cases with laparoscopic-assisted abdominal catheter placement. The rarity of bilateral abducens and facial nerve palsies emphasizes the importance of ongoing research to understand pathophysiology and develop preventive and therapeutic strategies for this unique complication.

COVID-19-Associated Bilateral Avascular Necrosis of Femoral Head in a Young Male Without Corticosteroid Exposure: A Case Report.

Avascular necrosis (AVN), also known as osteonecrosis, ischemic bone necrosis, or aseptic necrosis, is a progressive bone disease marked by the deterioration of bone tissue due to compromised blood flow in the subchondral region. AVN is typically caused by disruptions in vascular supply, intravascular blockages, or pressure on blood vessels, leading to diminished circulation. This condition predominantly affects the long-bone epiphysis in weight-bearing joints, particularly impacting the femoral head. The ongoing global health challenge posed by the novel coronavirus disease (COVID-19) has raised awareness of its diverse clinical manifestations. While pulmonary dysfunction remains a hallmark, reports of AVN of the hip have emerged in association with COVID-19 infection. Despite existing literature documenting cases of unilateral and bilateral femoral head necrosis associated with COVID-19 infection, it is noteworthy that corticosteroid use has been identified as a significant contributing factor to the development of this condition. Here, we present a case of bilateral AVN of the femoral head in a young individual linked solely to COVID-19 infection. Existing case records show only a handful of instances where COVID-19 has led to avascular necrosis, all involving either older individuals or those with notable risk factors. What sets our case apart is that the patient is young and lacks any significant risk factors. This report aims to propose a credible connection between COVID-19 infection and femoral head osteonecrosis in young patients not exposed to steroid treatment.

Eye movement intervention facilitates concurrent perception and memory processing.

A widely used psychotherapeutic treatment for post-traumatic stress disorder (PTSD) involves performing bilateral eye movement (EM) during trauma memory retrieval. However, how this treatment-described as eye movement desensitization and reprocessing (EMDR)-alleviates trauma-related symptoms is unclear. While conventional theories suggest that bilateral EM interferes with concurrently retrieved trauma memories by taxing the limited working memory resources, here, we propose that bilateral EM actually facilitates information processing. In two EEG experiments, we replicated the bilateral EM procedure of EMDR, having participants engaging in continuous bilateral EM or receiving bilateral sensory stimulation (BS) as a control while retrieving short- or long-term memory. During EM or BS, we presented bystander images or memory cues to probe neural representations of perceptual and memory information. Multivariate pattern analysis of the EEG signals revealed that bilateral EM enhanced neural representations of simultaneously processed perceptual and memory information. This enhancement was accompanied by heightened visual responses and increased neural excitability in the occipital region. Furthermore, bilateral EM increased information transmission from the occipital to the frontoparietal region, indicating facilitated information transition from low-level perceptual representation to high-level memory representation. These findings argue for theories that emphasize information facilitation rather than disruption in the EMDR treatment.

Bilateral same-day myringoplasty: a feasible option?

PURPOSE: Retrospective evaluation of bilateral same-day myringoplasty outcomes. METHODS: Patients who underwent bilateral same-day myringoplasty from 2005 to 2019. RESULTS: Thirty-eight patients underwent bilateral myringoplasty. Mean age was 44.5 years and 55.3% patients were male. Tragal perichondrium-cartilage composite graft was the most frequently used graft material (82.9%). Perforation closure was achieved in 78.9%. Postoperative Pure Tone Average and Air-Bone Gap decreased significantly (p < 0.05), except for the Air-Bone Gap of the right ear (p = 0.058). The complications were cholesteatoma (1.3%), otorrhea (6.6%) and tympanic membrane retraction (1.3%). CONCLUSIONS: Bilateral same-day myringoplasty is a feasible procedure in selected patients. Good anatomic and functional outcomes, as well as a low rate of complications, are achieved with this procedure, improving patient comfort and allowing for a reduction in operation time and costs.

Orthognathic Surgery in Patients With Von Willebrand's Disease: A Report of Four Cases and Literature Review.

Von Willebrand's disease (VWD), characterized by quantitatively or qualitatively abnormal von Willebrand factor (VWF), is the most common inherited bleeding disorder. There is limited evidence of treatment using orthognathic surgery in patients with VWD. This report focuses on four patients with VWD who underwent orthognathic surgery and received Factor VIII/VWF concentrates (Confact F) preoperatively. One patient with type 3 (severe) VWD underwent delayed extubation owing to laryngeal edema and exhibited epistaxis thereafter. No perioperative complications were observed in any of the other patients. Two of the four patients were diagnosed with VWD during preoperative screening. Most young adults do not experience general anesthesia and, therefore, may not have undergone blood tests at a hospital. Thus, preoperative screening and adoption of a multidisciplinary approach to orthognathic surgery is important in patients with bleeding disorders such as VWD. Close communication between anesthetists, surgeons, and hematologists is essential to ensure effective management during the perioperative period.

Sequential mechanical thrombectomies in acute bilateral middle cerebral artery strokes: A case report and review of literature.

Simultaneous occlusion of both middle cerebral arteries (MCAs) is very rare and usually devastating. Few case reports are available in the literature where bilateral thrombectomy was done simultaneously to remove the clot. High NIH stroke scale with a low level of consciousness can be a clue for the diagnosis. Timely intervention is necessary to decrease morbidity and mortality in these patients. We also reviewed the existing literature where mechanical thrombectomies were done for bilateral MCA stroke in PubMed, Google Scholar, Cochrane, and Embase. Herein, we report a case of 47-year-old female having rheumatic heart disease presented with simultaneous bilateral MCAs occlusion, treated with mechanical thrombectomies successfully.

Construction of a screening system for lipid-derived radical inhibitors and validation of hit compounds to target retinal and cerebrovascular diseases.

Recent studies have highlighted the indispensable role of oxidized lipids in inflammatory responses, cell death, and disease pathogenesis. Consequently, inhibitors targeting oxidized lipids, particularly lipid-derived radicals critical in lipid peroxidation, which are known as radical-trapping antioxidants (RTAs), have been actively pursued. We focused our investigation on nitroxide compounds that have rapid second-order reaction rate constants for reaction with lipid-derived radicals. A novel screening system was developed by employing competitive reactions between library compounds and a newly developed profluorescence nitroxide probe with lipid-derived radicals to identify RTA compounds. A PubMed search of the top hit compounds revealed their wide application as repositioned drugs. Notably, the inhibitory efficacy of methyldopa, selected from these compounds, against retinal damage and bilateral common carotid artery stenosis was confirmed in animal models. These findings underscore the efficacy of our screening system and suggest that it is an effective approach for the discovery of RTA compounds.

Spinal lipocalin 2 as a factor in the development of central post-stroke pain.

Central poststroke pain (CPSP) is a type of central neuropathic pain whose mechanisms remain unknown. Recently, we showed that activated astrocytes and microglial cells are present in the spinal cord of CPSP model mice. Activated glial cells exacerbate cerebral ischemic pathology by increasing the expression of inflammatory factors. However, the involvement of spinal glial cells in CPSP remains unknown. We hypothesized that spinal glial cell-derived molecules cause hyperexcitability or promoted the development of CPSP. In this study, we identified glial cell-derived factors involved in the development of CPSP using a bilateral common carotid occlusion (BCAO)-induced CPSP mouse model. Male ddY mice were subjected to BCAO for 30 min. The von Frey test assessed mechanical hypersensitivity in the right hind paw of mice. BCAO mice showed hypersensitivity to mechanical stimuli and astrocyte activation in the spinal cord 3 days after treatment. DNA microarray analysis revealed a significant increase in lipocalin 2 (LCN2), is known as neutrophil gelatinase-associated lipocalin, in the superficial dorsal horns of BCAO-induced CPSP model mice. LCN2 colocalized with GFAP, an astrocyte marker. Spinal GFAP-positive cells in BCAO mice co-expressed signal transducer and activator of transcription 3 (STAT3). The increase in the fluorescence intensity of LCN2 and GFAP in BCAO mice was suppressed by intrathecal injection of AG490, an inhibitor of JAK2 and downstream STAT3 activation, or anti-LCN2 antibody. Our findings indicated that LCN2 in spinal astrocytes may be a key molecule and may be partly involved in the development of CPSP.

Imágenes multimodales y retromodo en la calcificación esclerocoroidea: reporte de un caso / Multimodal and retro-mode imaging in sclerochoroidal calcification: A case report

Presentamos un reporte de caso en una paciente de 70años sobre las calcificaciones esclerocoroideas, una rara condición que involucra depósitos de pirofosfato de calcio en el polo posterior del ojo. Proporcionamos un relato sobre la presentación clínica y su apariencia en imágenes multimodales, utilizando fotografías de color del fondo de ojo, tomografía de coherencia óptica de fuente de barrido (SS-OCT), ecografía ocular y la novedosa técnica de retromodo (RMI). Al examen la agudeza visual fue de 20/25 en el ojo derecho y de 20/20 en el ojo izquierdo. La fotografía de color del fondo de ojo reveló depósitos amarillentos localizados en la arcada temporal-superior de ambos ojos. SS-OCT demostró masas de origen escleral. Las ecografías oculares confirmaron la calcificación de estas masas. El RMI detectó imágenes hiperreflectivas con una marcada elevación superficial de las lesiones. El laboratorio sistémico no presentó alteraciones, lo que llevó al diagnóstico de calcificaciones esclerocoroideas bilaterales de origen idiopático.(AU)

We present a case report on sclerochoroidal calcification (SCC), a rare condition involving calcium pyrophosphate deposits in the posterior pole of the eye in a 70-year-old patient. We provide an account of the clinical presentation and its appearance in multimodal images, using color fundus photography, swept-source optical coherence tomography (SS-OCT), ocular ultrasound, and the novel retro-mode imaging (RMI) technique. Visual acuity was 20/25 in the right eye (OD) and 20/20 in the left eye (OS). Color fundus photography revealed yellowish deposits located in the upper temporal arcade of both eyes. SS-OCT demonstrated masses of scleral origin. Ocular ultrasounds confirmed the calcification of these masses. RMI detected hyper-reflective images with marked superficial elevation. Systemic laboratory results did not detect any abnormalities, leading to the diagnosis of bilateral idiopathic SCC.(AU)

Un caso inusual de oclusión de rama arterial retiniana: posible variante del síndrome de Sneddon / Unusual case of retinal arterial branch occlusion: Possible variant of Sneddon syndrome

El síndrome de Sneddon (SS) se manifiesta por múltiples accidentes cerebrovasculares y livedo reticularis. La vasculopatía livedoide (VL) se caracteriza por una larga historia de ulceración de pies y piernas y una histopatología que indica un proceso trombótico. Se describe una oclusión de rama arterial retiniana en un varón de 52años con VL. No presentó anomalías de laboratorio perceptibles, como anticuerpos antifosfolípidos, ni antecedentes de accidentes cerebrovasculares. La oclusión de arteria retiniana acompañada de VL podría ser una variante del síndrome de Sneddon. Con angiografía por tomografía de coherencia óptica se observó en la mácula en el ojo asintomático una reducción de las capas vasculares, lo que indica cambios microvasculares localizados como marcador evolutivo en la patogénesis del SS.(AU)

Sneddon's syndrome (SS) manifests through multiple strokes and livedo reticularis. Livedoid vasculopathy (LV) is characterized by a long history of foot and leg ulceration and histopathology indicating a thrombotic process. Arterial retinal branch occlusion is described in a 52-year-old male with LV. He did not present noticeable laboratory abnormalities, such as antiphospholipid antibodies, or a history of strokes. Retinal artery occlusion accompanied by LV could be a variant of Sneddon's syndrome. Optical coherence tomography angiography revealed a reduction in the macula's vascular layers in the asymptomatic eye, indicating localized microvascular changes as an evolving marker in the pathogenesis of SS.(AU)

Bilateral Giant Supraclinoid Carotid Aneurysms Causing Obstructive Hydrocephalus: Case Report and Literature Review.

Intracranial aneurysms are common conditions that are usually asymptomatic and found incidentally, yet they can rupture and lead to subarachnoid hemorrhage, in addition to causing mass effects, especially with larger aneurysms. Bilateral supraclinoid aneurysms are extremely rare and were reported in only two instances. These aneurysms can cause a range of symptoms and require careful management. We present the case of a 42-year-old man with no concomitant medical conditions who presented with a persistent headache and deteriorating visual acuity over time. Neurological examination was unremarkable. Connective tissue diseases were ruled out by clinical and laboratory testing. Bilateral large, partly thrombosed supraclinoid segment fusiform aneurysms of the internal carotid artery that are causing midbrain compression and obstructive hydrocephalus were shown by brain CT, CT angiography, MRI, and MR angiography (MRA). Both surgery and endovascular treatment were denied by the patient. However, a ventriculoperitoneal shunt was placed in an outside center and relieved the patient's symptoms. The patient is being followed up. In conclusion, bilateral giant aneurysms of the internal carotid artery present unique challenges and can lead to various clinical manifestations and effects on surrounding structures. In this case, we reported the first instance of obstructed hydrocephalus caused by the largest bilateral supraclinoid carotid aneurysms.

Successful Management of Acute Streptococcal Meningoencephalitis Complicated by Bilateral Third-Nerve Palsies, Wall-Eyed Bilateral Internuclear Ophthalmoplegia, Blindness, and Deafness: Case Report.

Introduction: Streptococcal meningoencephalitis (SME) is a rare, and frequently lethal, acute infection, and inflammation of the central nervous system parenchyma, with associated meningeal involvement. Bacterial meningoencephalitis is generally associated with high rates of morbidity and mortality, despite available antimicrobial and corticosteroid treatments. While Streptococcus pneumoniae is well recognised to cause bacterial meningitis, direct extension into the central nervous system parenchyma is rare. Case Presentation: A previously well 49-year-old man presented with sudden onset severe headache, fevers, neck stiffness, and reduced consciousness. The manifestations of SME in this patient were bilateral pupil-involving third-nerve palsies, wall-eyed bilateral internuclear ophthalmoplegia (WEBINO), bilateral blindness, bilateral deafness, a right lower motor neuron facial palsy, and upper motor neuron signs in his limbs. Initially, a partial response to high dose intravenous antibiotics occurred, but with administration of intravenous corticosteroids, further substantial resolution of the patient's neurological and neuro-ophthalmological deficits occurred. Conclusion: This case highlights the benefit of multidisciplinary diagnostic and therapeutic interventions in a case of SME complicated by bilateral pupil-involving third-nerve palsies, WEBINO, bilateral blindness, bilateral deafness, a right lower motor neuron facial palsy, and upper motor neuron signs. It appears to be the first reported case of SME with this rare collection of neuro-ophthalmological abnormalities.

Bilateral lower limb examinations for deep vein thrombosis: A single-centre pilot study comparing request and report parameters for bilateral and unilateral referrals.

INTRODUCTION: Deep vein thrombosis (DVT) is a common pathology with significant morbidity and mortality, often occurring in the lower limb. Ultrasound is the modality of choice for diagnosis of DVT, but all guidance in the United Kingdom assumes a single leg referral. Few studies have addressed the question of bilateral referrals and bilateral DVTs, and it is not known how these should be included in ultrasound protocols. This study aims to compare the request and report parameters of bilateral examinations with those for single leg examinations over a six-month period. METHODS: A single-centre feasibility study collected data on all single and bilateral leg examinations performed by sonographers, over a six-month period at a small general hospital. Data collected for each examination included the referral and report findings. These were compared using basic statistical methods to compare DVT yield by laterality, referrer, DVT site, and patient factors. RESULTS: Six hundred and thirty examinations were included, eighteen of which were bilateral examinations. Although the bilateral leg cohort was small, there were significant differences in DVT yield between the groups, with single leg referrals more than eight times more likely to demonstrate a DVT at ultrasound. CONCLUSION: In a context of limited ultrasound resource, the low DVT yield of bilateral examinations has implications for service design. Further data collection will be needed to validate initial results, and to establish suitable criteria for acceptance of bilateral DVT referrals. IMPLICATIONS FOR PRACTICE: Low yield of DVTs in bilateral examinations can be validated via further research. Bilateral examinations can be explicitly included in DVT service design.

Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.

Congenital disorders of glycosylation (CDG) are a group of rare autosomal recessive genetic disorders caused by pathogenic variants in genes coding for N-glycosylated glycoproteins, which play a role in folding, degrading, and transport of glycoproteins in their pathway. ALG12-CDG specifically is caused by biallelic pathogenic variants in ALG12. Currently reported features of ALG12-CDG include: developmental delay, hypotonia, failure to thrive and/or short stature, brain anomalies, recurrent infections, hypogammaglobulinemia, coagulation abnormalities, and genitourinary abnormalities. In addition, skeletal abnormalities resembling a skeletal dysplasia including shortened long bones and talipes equinovarus have been seen in more severe neonatal presentation of this disorder. We report on a case expanding the phenotype of ALG12-CDG to include bilateral, multicystic kidneys in a neonatal demise identified with homozygous pathogenic variants in the ALG12 gene at c.1001del (p.N334Tfs*15) through clinical trio exome sequencing.