Chronic cerebrospinal fluid leak with spinal cord compression can mimic the symptoms of ALS, with a snake-eyes appearance on MRI.

OBJECTIVE: To determine the efficacy of refrigerated gel packs in achieving and maintaining target temperature in neonates receiving therapeutic hypothermia (TH) for hypoxic ischaemic encephalopathy during neonatal retrieval.
METHODS: Retrospective cohort study.
METHODS: Paediatric Infant Perinatal Emergency Retrieval, Victoria, Australia.
METHODS: 200 neonates treated with TH during retrieval between 1 January 2015 and 31 December 2020.
METHODS: Active cooling with refrigerated gel packs or passive cooling.
METHODS: The primary outcomes were the proportion of neonates who achieved therapeutic cooling rectal temperature (33-34°C) within 6 hours of birth and maintained target temperature range once TH was achieved. Secondary outcomes included need for respiratory support, inotropes, anticonvulsant therapy, sedation and survival at 7 days of life.
RESULTS: 200 neonates received TH. Median gestational age was 39 weeks and median birth weight 3300 g. 120 (60%) were actively cooled with refrigerated gel packs and the remainder passively cooled. 121 neonates (61%) reached target temperature within 6 hours and 14 (7%) after 6 hours of birth. Of those who achieved target temperature, 38% were maintained in therapeutic cooling range for the remainder of the retrieval.
CONCLUSIONS: Achieving and maintaining TH during neonatal retrieval with gel packs is challenging. Target temperature was not maintained in most neonates in this study. These findings support existing evidence favouring the use of servo-controlled cooling devices to optimise TH in the retrieval setting.

BACKGROUND: SINE-VNTR-Alu (SVA) retrotransposons move from one genomic location to another in a \'copy-and-paste\' manner. They continue to move actively and cause monogenic diseases through various mechanisms. Currently, disease-causing SVA retrotransposons are classified into human-specific young SVA_E or SVA_F subfamilies. In this study, we identified an evolutionarily old SVA_D retrotransposon as a novel cause of occipital horn syndrome (OHS). OHS is an X-linked, copper metabolism disorder caused by dysfunction of the copper transporter, ATP7A.
METHODS: We investigated a 16-year-old boy with OHS whose pathogenic variant could not be detected via routine molecular genetic analyses.
RESULTS: A 2.8 kb insertion was detected deep within the intron of the patient\'s ATP7A gene. This insertion caused aberrant mRNA splicing activated by a new donor splice site located within it. Long-read circular consensus sequencing enabled us to accurately read the entire insertion sequence, which contained highly repetitive and GC-rich segments. Consequently, the insertion was identified as an SVA_D retrotransposon. Antisense oligonucleotides (AOs) targeting the new splice site restored the expression of normal transcripts and functional ATP7A proteins. AO treatment alleviated excessive accumulation of copper in patient fibroblasts in a dose-dependent manner. Pedigree analysis revealed that the retrotransposon had moved into the OHS-causing position two generations ago.
CONCLUSIONS: This is the first report of a human monogenic disease caused by the SVA_D retrotransposon. The fact that the evolutionarily old SVA_D is still actively transposed, leading to increased copy numbers may make a notable impact on rare genetic disease research.

BACKGROUND: Post-traumatic stress disorder (PTSD) is a prevalent and severe psychiatric disorder. Repetitive transcranial magnetic stimulation (rTMS) targeting the dorsolateral prefrontal cortex provides limited relief for symptoms of PTSD. This study will be conducted to validate the efficacy of MRI-guided rTMS in targeting the sites most closely associated with the amygdala for patients with PTSD. We hypothesise that the intervention will improve clinical symptoms by decreasing amygdala activity in patients.
METHODS: A randomised, double-blind, sham-controlled trial will be conducted. Forty-eight eligible patients with PTSD will be randomly assigned to receive either active or sham MRI-guided rTMS for 10 consecutive days after the initial MRI scans. MRI scans will be recollected at the end of the intervention. Clinical assessments will be performed at baseline, treatment day 5, treatment day 10, and 2 weeks, 4 weeks, 8 weeks after completion of the intervention to monitor changes in clinical symptoms. The primary assessment outcome is the change in PTSD symptoms between baseline and treatment day 10, as measured by the PTSD Checklist for DSM-5. Repeated measures analysis of variance will be performed using statistical software SPSS V.26.0. The significance level will be set at 0.05.
BACKGROUND: Ethical approval has been obtained from the Ethics Committee of Xijing Hospital in Xi\'an, China (KY20222176-X-1), and the trial has been registered on ClinicalTrials.gov. The findings of this trial will be disseminated at academic conferences or published in peer-reviewed scientific journals.
BACKGROUND: NCT05544110.

OBJECTIVE: The survival rate and patterns of brain injury after very preterm birth are evolving with changes in clinical practices. Additionally, incidental findings can present legal, ethical and practical considerations. Here, we report MRI features and incidental findings from a large, contemporary research cohort of very preterm infants and term controls.
METHODS: 288 infants had 3T MRI at term-equivalent age: 187 infants born <32 weeks without major parenchymal lesions, and 101 term-born controls. T1-weighted, T2-weighted and susceptibility-weighted imaging were used to classify white and grey matter injury according to a structured system, and incidental findings described.
RESULTS: Preterm infants: 34 (18%) had white matter injury and 4 (2%) had grey matter injury. 51 (27%) infants had evidence of intracranial haemorrhage and 34 (18%) had punctate white matter lesions (PWMLs). Incidental findings were detected in 12 (6%) preterm infants. Term infants: no term infants had white or grey matter injury. Incidental findings were detected in 35 (35%); these included intracranial haemorrhage in 22 (22%), periventricular pseudocysts in 5 (5%) and PWMLs in 4 (4%) infants. From the whole cohort, 10 (3%) infants required referral to specialist services.
CONCLUSIONS: One-fifth of very preterm infants without major parenchymal lesions have white or grey matter abnormalities at term-equivalent age. Incidental findings are seen in 6% of preterm and 35% of term infants. Overall, 3% of infants undergoing MRI for research require follow-up due to incidental findings. These data should help inform consent procedures for research and assist service planning for centres using 3T neonatal brain MRI for clinical purposes.

BACKGROUND: Cavernous sinus thrombosis (CST) is a serious condition that carries with it a high rate of morbidity and mortality.
OBJECTIVE: This review highlights the pearls and pitfalls of CST, including presentation, diagnosis, and management in the emergency department (ED) based on current evidence.
CONCLUSIONS: CST is a potentially deadly thrombophlebitic disease involving the cavernous sinuses. The most common underlying etiology is sinusitis or other facial infection several days prior to development of CST, though other causes include maxillofacial trauma or surgery, thrombophilia, dehydration, or medications. Staphylococcus aureus, streptococcal species, oral anaerobic species, and gram-negative bacilli are the most frequent bacterial etiologies. The most prevalent presenting signs and symptoms are fever, headache, and ocular manifestations (chemosis, periorbital edema, ptosis, ophthalmoplegia, vision changes). Cranial nerve (CN) VI is the most commonly affected CN, resulting in lateral rectus palsy. Other CNs that may be affected include III, IV, and V. The disease may also affect the pulmonary and central nervous systems. Laboratory testing typically reveals elevated inflammatory markers, and blood cultures are positive in up to 70% of cases. Computed tomography of the head and orbits with intravenous contrast delayed phase imaging is recommended in the ED setting, though magnetic resonance venography demonstrates the highest sensitivity. Management includes resuscitation, antibiotics, and anticoagulation with specialist consultation.
CONCLUSIONS: An understanding of CST can assist emergency clinicians in diagnosing and managing this potentially deadly disease.

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UNASSIGNED: Without explicit education and training on how social determinants of health (SDoH) impact patient care and health outcomes, medical schools are failing to effectively equip future physicians to serve their patients. We created this workshop on health equity with a focus on SDoH to help students more effectively communicate with diverse populations.
UNASSIGNED: Third-year medical students and faculty were provided with class guides, learning objectives, role-play vignettes containing clerkship-specific history and physical exams, schedules, and discussion questions during a 2-hour session centered on SDoH. The workshop\'s impact was measured through mixed-methods analysis of surveys.
UNASSIGNED: Based on pre- and postsurvey results from 87 participants, medical students strongly agreed that (1) SDoH factor more into a patient\'s health outcomes than the clinical encounter (pre: 67%, post: 87%), (2) it is their duty to gather information about SDoH (pre: 86%, post: 97%), (3) neighborhood safety is one of the key SDoH (pre: 88%, post: 97%), (4) they understood the impact of upstream interventions (pre: 35%, post: 93%), (5) they could efficiently screen all patients for SDoH at every medical encounter (pre: 27%, post: 86%), and (6) they could find preliminary resources to quickly assist patients in need of help regarding particular SDoH (pre: 26%, post: 85%).
UNASSIGNED: This was the first iteration of this workshop; challenges involved piloting the content, time restraints, and organizational structure of the workshop design. Future directions include making SDoH curricula an integral part of undergraduate medical education and diverse clinical environments.

Neurosyphilis, a rare manifestation of Treponema pallidum spreading into the central nervous system, is a critical differential diagnosis due to its potentially severe neurologic effects if left untreated. We present a case of a 37-year-old woman who complained of bilateral vision loss and headaches originally concerning for idiopathic intracranial hypertension and uncontrolled diabetes. Comprehensive evaluations eventually led to a neurosyphilis diagnosis. Ophthalmologic examination revealed multifactorial visual symptoms with diabetic retinopathy contributing alongside neurosyphilis. Treatment was started promptly at the time of diagnosis and resulted in improvement in visual symptoms. This case emphasizes the importance of syphilis screening in appropriate age ranges, even in low-prevalence areas. Recognition of neurosyphilis as a potential diagnosis can impact patient outcomes and highlights the need for continued vigilance to identify the disease.

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