Clinical signs associated with severe ST segment elevation in three cats with a hypertrophic cardiomyopathy phenotype.

Three cats were presented for unusual collapsing episodes. Echocardiography revealed a hypertrophic cardiomyopathy (HCM) phenotype in each cat. Continuous electrocardiographic monitoring showed that the clinical signs coincided with periods of severe ST-segment elevation in each cat. The first cat was treated with amlodipine and diltiazem but did not improve and was euthanized due to poor quality of life. Postmortem examination revealed cardiac lymphoma without obstructive coronary disease. The second cat was thought to have cardiac lymphoma, based on pericardial effusion cytology, and was euthanized before starting therapy. The third cat was diagnosed with HCM and left ventricular outflow tract obstruction and was treated with atenolol and diltiazem. This treatment reduced the frequency of episodic clinical signs, but the cat subsequently developed congestive heart failure and was euthanized. This case series describes clinical signs associated with severe ST elevation in cats with an HCM phenotype, and their outcomes. Continuous electrocardiographic monitoring was necessary to detect transient ST elevation in each case.

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.

There are more than 70 million people worldwide living with epilepsy, with most experiencing the onset of epilepsy in childhood. Despite the availability of more than 20 anti-seizure medications, approximately 30% of epilepsy patients continue to experience unsatisfactory treatment outcomes. This situation places a heavy burden on patients' families and society. Childhood epilepsy is a significant chronic neurological disease that is closely related to genetics. Col4a2, the gene encoding the α2 chain of type IV collagen, is known to be associated with multiple diseases due to missense mutations. The Col4a2 variant of collagen type IV is associated with various phenotypes, including prenatal and neonatal intracranial hemorrhage, porencephaly, porencephaly with cataracts, focal cortical dysplasia, schizencephaly, strokes in childhood and adolescence, and sporadic delayed hemorrhagic stroke. Although epilepsy is recognized as a clinical manifestation of porencephaly, the specific mechanism of Col4a2-related epileptic phenotypes remains unclear. A total of 8 patients aged 2 years and 2 months to 18 years who were diagnosed with Col4a2-related infantile epileptic spasm syndrome were analyzed. The seizure onset age ranged from 3 to 10 months. Initial EEG results revealed hypsarrhythmia or multiple and multifocal sharp waves, spike waves, sharp slow waves, or spike slow waves. Elevated levels of the cytokines IL-1ß (32.23±12.58 pg/ml) and IL-6 (45.12±16.03 pg/ml) were detected in the cerebrospinal fluid of these patients without any signs of infection. Following antiseizure treatment, decreased IL-1ß and IL-6 levels in the cerebrospinal fluid were noted when seizures were under control. Furthermore, we aimed to investigate the role of Col4a2 mutations in the development of epilepsy. Through the use of immunofluorescence assays, ELISA, and Western blotting, we examined astrocyte activity and the expression of inflammatory cytokines such as IL-1ß, IL-6, and TNF-α after overexpressing an unreported Col4a2 (c.1838G>T) mutant in CTX-TNA cells and primary astrocytes. We found that the levels of the inflammatory factors IL-1ß, IL-6, and TNF-α were increased in both CTX-TNA cells (ELISA: p = 0.0087, p<0.001, p<0.001, respectively) and primary astrocytes (ELISA: p = 0.0275, p<0.001, p<0.001, respectively). Additionally, we conducted a preliminary investigation of the role of the JAK/STAT pathway in Col4a2 mutation-associated epilepsy. Col4a2 mutation stimulated astrocyte activation, increasing iNOS, COX-2, IL-1ß, IL-6, and TNF-α levels in both CTX-TNA cells and primary astrocytes. This mutation also activated the JAK/STAT signaling pathway, leading to increased phosphorylation of JAK2 and STAT3. Treatment with the JAK/STAT inhibitor WP1066 effectively counteracted this effect in primary astrocytes and CTX-TNA cells. To date, the genes who mutations are known to cause developmental and epileptic encephalopathies (DEEs) are predominantly grouped into six subtypes according to function. Our study revealed that an unreported mutation site Col4a2Mut (c.1838G>T) of which can cause neuroinflammation, may be a type VII DEE-causing gene.

Uncovering a hidden danger: a case report of diffuse coronary spasm concealing spontaneous coronary artery dissection.

BACKGROUND: Over recent years, spontaneous coronary artery dissection (SCAD) has emerged as a no longer rare cause of acute coronary syndrome (ACS). On the other hand, coronary artery spasm (CAS) is the main cause of ischemic heart disease with non-obstructive coronary lesions. Clinical manifestations of both vary from stable angina to ACS or, rarely, sudden cardiac death. These entities may be underdiagnosed on a coronary angiography. CASE PRESENTATION: We report the case of a young woman presenting with acute chest pain and no coronary risk factors. Angiography revealed a focal subcritical stenosis of the right coronary artery. Coronary wiring resulted in diffuse and critical spasm. However, optical coherence tomography (OCT) and intravascular ultrasound (IVUS) showed extensive SCAD. She was therefore treated conservatively. On the fourth day, cardiac computed tomography angiography (CCTA) excluded disease progression, and then she was discharged on medical therapy. CONCLUSIONS: Combined IVI plays a vital role in providing accurate and detailed visualization of the coronary anatomy and thus allowing for more precise diagnosis, risk stratification, and treatment planning. CCTA can be considered a valuable tool in the noninvasive follow-up of SCAD.

Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review.

BACKGROUND: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and life-threatening autoimmune disease of the central nervous system. So far, only ten cases of PERM have been reported in children worldwide, including the one in this study. CASE PRESENTATION: We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab. CONCLUSIONS: We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.

Focal monopolar pulsed field ablation from within the great cardiac vein for idiopathic premature ventricular contractions after failed radiofrequency ablation.

BACKGROUND: Idiopathic epicardial premature ventricular contractions (PVCs) originating from the left ventricular summit are difficult to eliminate. OBJECTIVE: To describe feasibility and procedural safety of focal monopolar biphasic pulsed field ablation (F-PFA) from within the great cardiac vein (GCV) for the treatment of idiopathic epicardial PVCs. METHODS: In 4 pigs, F-PFA (CENTAURI, Cardiofocus) was applied from within the GCV followed by macroscopic gross analysis. In 4 patients with previously failed radiofrequency ablation, electroanatomic mapping was used to guide F-PFA from within the GCV and the ventricular outflow tracts. Coronary angiography and optical coherence tomography (OCT) were performed in 2 patients. RESULTS: In pigs, F-PFA from within the GCV (5mm away from the coronary arteries) resulted in myocardial lesions with a maximal depth of 4mm which was associated with non-obstructive transient coronary spasms. In patients, sequential delivery of F-PFA in the ventricular outflow tracts and from within the GCV eliminated the PVCs. During F-PFA delivery from within the GCV with prophylactic nitroglycerin application, coronary angiography showed no coronary spasm when F-PFA was delivered >5mm away from the coronary artery and a transient coronary spasm without changes in a subsequent OCT, when F-PFA was delivered directly on the coronary artery. Intracardiac echo and computer tomography integration was used to monitor F-PFA delivery from within the GCV. There were no immediate or short-term complications. CONCLUSION: Sequential mapping-guided F-PFA from endocardial ventricular outflow tracts and from within the GCV is feasible with a favourable procedural safety profile for the treatment of epicardial PVC.

New avenues for the assessment of stable ischemic heart disease.

Myocardial ischemia is a complex condition which may result from epicardial and/or microvascular causes involving functional and structural mechanisms. These mechanisms may overlap in a given patient illustrating the difficulties for appropriate management. Assessment of myocardial ischemia can be performed using noninvasive and invasive tools. However, despite living in the era of individualized precision medicine, these tools are not yet used in a broader fashion. Emerging noninvasive techniques such as quantitative perfusion cardiac magnetic resonance imaging (CMR) and stress perfusion computed tomography (CT) or photon-counting CT techniques may contribute to new standards in the assessment of stable angina patients. Invasive evaluation of myocardial ischemia should not only focus on hemodynamically relevant epicardial disease but also involve coronary vasomotor function testing (coronary spasm, coronary flow reserve, and microvascular resistance) where appropriate. Optimal patient management will depend on accurate and comprehensive diagnostic evaluation of myocardial ischemia and development of new treatment options in the future.

Exploring Infantile Epileptic Spasm Syndrome: A Proteomic Analysis of Plasma Using the Data-Independent Acquisition Approach.

This study aimed to identify characteristic proteins in infantile epileptic spasm syndrome (IESS) patients' plasma, offering insights into potential early diagnostic biomarkers and its underlying causes. Plasma samples were gathered from 60 patients with IESS and 40 healthy controls. Data-independent acquisition proteomic analysis was utilized to identify differentially expressed proteins (DEPs). These DEPs underwent functional annotation through Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses. Gene set enrichment analysis (GSEA) was employed for both GO (GSEA-GO) and KEGG (GSEA-KEGG) analyses to examine the gene expression profiles. Receiver operating characteristic (ROC) curves assessed biomarkers' discriminatory capacity. A total of 124 DEPs were identified in IESS patients' plasma, mainly linked to pathways, encompassing chemokines, cytokines, and oxidative detoxification. GSEA-GO and GSEA-KEGG analyses indicated significant enrichment of genes associated with cell migration, focal adhesion, and phagosome pathways. ROC curve analysis demonstrated that the combination of PRSS1 and ACTB, PRSS3, ACTB, and PRSS1 alone exhibited AUC values exceeding 0.7. This study elucidated the significant contribution of cytokines, chemokines, oxidative detoxification, and phagosomes to the IESS pathogenesis. The combination of PRSS1 and ACTB holds promise as biomarkers for the early diagnosis of IESS.

Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.

Background: The IQ motif and Sec7 domain ArfGEF 2 (IQSEC2), an X-linked gene that encodes the BRAG1 protein, is a guanine nucleotide exchange factor for the ADP ribosylation factor (ARF) protein family in the small guanosine triphosphate (GTP) binding protein. Mutations in this gene result in disorders such as intellectual disability (ID) and epilepsy. In this study, we analyze the clinical features of two patients with IQSEC2-mutation-related disease and discuss their possible pathogenesis. Methods: The two patients were diagnosed with ID and epilepsy. Genetic testing was performed using whole-exome sequencing, and the three-dimensional protein structure was analyzed. UCSC Genome Browser was used to analyze the conservation of IQSEC2 in different species. We compared IQSEC2 expression in the proband families with that in a control group, as well as the expression of the postsynaptic identity protein 95 (PSD-95), synapse-associated protein 97 (SAP97), ADP ribosylation factor 6 (ARF-6), and insulin receptor substrate 53kDa (IRSP53) genes interacting with IQSEC2. Results: We identified two semi-zygote mutations located in conserved positions in different species: an unreported de novo mutation, C.3576C>A (p. Tyr1192*), and a known mutation, c.2983C>T (p. Arg995Trp). IQSEC2 mutations resulted in significant changes in the predicted three-dimensional protein structure, while its expression in the two probands was significantly lower than that in the age-matched control group, and IQSEC2 expression in proband 1 was lower than that in his family members. The expression levels of PSD-95, ARF-6, and SAP97, IRSP 53, which interact with IQSEC2, were also significantly different from those in the family members and age-matched healthy children. Conclusion: The clinical phenotype resulting from IQSEC2 mutations can be explained by the significant decrease in its expression, loss of function of the mutant protein, and change in the expression of related genes. Our results provide novel insights into the molecular phenotype conferred by the IQSEC2 variants.

Construction of early warning classification of risk in bladder spasm and its intervention plans guided by the rate adjustment card of continuous bladder irrigation after transurethral resection of the prostate (TURP): development and usability study.

Background: Benign prostatic hyperplasia (BPH) is the most common benign disease causing voiding dysfunction in middle-aged and elderly men. the current "gold standard" for surgical treatment is transurethral resection of the prostate (TURP). Continuous bladder irrigation (CBI) is routinely given for 3 to 5 days after operation. However, this may induce bladder spasm. Bladder spasm not only brings physical and mental pain to patients, delaying the postoperative recovery process, but it also increases the medical economic burden. Therefore, it is important to take active measures to effectively warn and deal with bladder spasm. The color of the drainage fluid is an important indicator and requires close observation during CBI, as it can reflect real-time postoperative bleeding. When the color of drainage fluid is abnormal, effective measures should be undertaken. Grading nursing intervention divides patients into different conditions according to their possible changes, and then recommends targeted nursing intervention. Existing studies have formulated CBI programs from the perspective of quantifying the relationship between drainage fluid color and irrigation speed, but have yet to incorporate bladder spasm prevention and control levels or design corresponding grading nursing intervention programs according to different drainage fluid colors. This study aimed to construct the risk warning classification and intervention plan of bladder spasm under the guidance of CBI speed adjusting card after TURP. Methods: Based on the rate adjustment card of CBI after TURP, we formulated the first draft of an early warning classification of risk in bladder spasm and its intervention plans by combining methods suggested from a literature search with semi-structured interviews and results from 2 rounds of correspondence inquiries with 28 experts by the Delphi method. We further screened and revised grading standards and measures. Results: The positive coefficients of experts in 2 rounds of correspondence inquiries were both 100%, the authority coefficients were both 0.952, and the Kendall harmony coefficients were 0.238 and 0.326, respectively (P<0.01). In the second round of correspondence inquiries, the coefficient of variation of expert opinions was 0.000-0.154, and the coefficient of variation of all items was <0.25. Finally, a 3-level risk warning classification standard and 23 nursing measures for CBI complicated by bladder spasm was constructed. Conclusions: The early warning classification of risk in bladder spasm and its intervention plans guided by rate adjustment card of CBI after TURP are scientific and feasible, and can provide a basis and guidance for effective and standardized CBI in patients after TURP.

Prediction of hemifacial spasm re-appearing phenomenon after microvascular decompression surgery in patients with hemifacial spasm using dynamic susceptibility contrast perfusion MRI.

Objective: Hemifacial spasm (HFS) is treated by a surgical procedure called microvascular decompression (MVD). However, HFS re-appearing phenomenon after surgery, presenting as early recurrence, is experienced by some patients after MVD. Dynamic susceptibility contrast (DSC) perfusion MRI and two analytical methods: receiver operating characteristic (ROC) curve and machine learning, were used to predict early recurrence in this study. Methods: This study enrolled sixty patients who underwent MVD for HFS. They were divided into two groups: Group A consisted of 32 patients who had early recurrence, and Group B consisted of 28 patients who had no early recurrence of HFS. DSC perfusion MRI was undergone by all patients before the surgery to obtain the several parameters. ROC curve and machine learning methods were used to predict early recurrence using these parameters. Results: Group A had significantly lower relative cerebral blood flow (rCBF) than Group B in most of the selected brain regions, as shown by the region-of-interest (ROI)-based analysis. By combining three extraction fraction (EF) values at middle temporal gyrus, posterior cingulate, and brainstem, with age, using naive Bayes machine learning method, the best prediction model for early recurrence was obtained. This model had an area under the curve (AUC) value of 0.845. Conclusion: By combining EF values with age or sex using machine learning methods, DSC perfusion MRI can be used to predict early recurrence before MVD surgery. This may help neurosurgeons to identify patients who are at risk of HFS recurrence and provide appropriate postoperative care.

Severe multifocal coronary artery spasms after cessation of vasodilators in a patient with a spontaneous coronary artery dissection: a case report.

Background: Vasospastic angina (VSA) and spontaneous coronary artery dissection (SCAD) are challenging causes of non-atherosclerotic acute coronary syndromes (ACS). Here, we report a unique ACS case with coexisting VSA and SCAD, highlighting specific strategies in diagnosis and management of these poorly studied conditions. Case summary: A woman in her mid-60s with a history of suspected microvascular angina and no atherosclerosis in a previously performed coronary computed tomography angiography presented with worsening chest pain. Invasive coronary angiography revealed a focal SCAD with a resulting high-degree stenosis of the right coronary artery. Shortly after successful percutaneous coronary intervention with stent implantation and stopping her previous vasodilator therapy with nitroglycerine and molsidomine, the patient developed recurrent anterior non-ST-segment elevation myocardial infarction. Surprisingly, repeat coronary angiography revealed severe multifocal coronary artery spasms that were successfully treated with intracoronary nitroglycerine. Vasospastic angina was subsequently managed with diltiazem, molsidomine, and nitrates. Discussion: Our report underscores the challenges in diagnosing and managing SCAD and VSA in ACS. The possible interplay between SCAD and VSA highlights the need for careful vasodilator therapy management, as seen in our patient, where therapy discontinuation led to severe multifocal VSA. This emphasizes the need for a comprehensive approach for optimal outcomes in complex ACS cases.

Prevalence of Coronary Vasomotor Disorders in Patients With Angina and Nonobstructive Coronary Arteries: A Sydney Experience.

BACKGROUND: Patients with angina and non-obstructive coronary arteries (ANOCA) frequently have coronary vasomotor disorders (CVaD), characterised by transient pathological vasoconstriction and/or impaired microvascular vasodilatation. Functional coronary angiography is the gold standard for diagnosing CVaD. Despite recommendations, testing is only available at a limited number of Australian and New Zealand centres. This study aimed to determine the prevalence of CVaDs in an Australian ANOCA population and identify predictive factors associated with specific endotypes. METHOD: Functional coronary angiography was performed in patients with suspected ANOCA. Vasoreactivity testing was performed using intracoronary acetylcholine provocation. A pressure-temperature sensor guidewire was used for coronary physiology assessment. Comprehensive clinical data on patient characteristics, cardiac risk factors, and symptom profiles was collected before testing. RESULTS: This prospective observational study at Royal Prince Alfred and Concord Repatriation General Hospital included 110 patients (58±13 years with 63.6% women), with 81.8% (90/110) having a CVaD. Regarding specific ANOCA endotypes, microvascular angina (MVA) occurred in 31.8% (35/110) of cases, vasospastic angina (VSA) in 25.5% (28/110) and a mixed presentation of MVA and VSA in 24.5% (27/110) of patients. Patients with CVaD were found to be older (59±11 vs 51±15, p=0.024), overweight (61.1% vs 15.0%, p<0.001) and had a worse quality of life (EuroQol 5 Dimensions-5 Levels; 0.61 vs 0.67, p=0.043). MVA was associated with being overweight (odds ratio [OR] 4.2 [95% confidence interval [CI] 1.9-9.3]; p=0.015) and ischaemia on stress testing (OR 2.4 [95% CI 1.1-4.3]; p=0.028), while VSA was associated with smoking (OR 9.1 [95% CI 2.21-39.3]; p=0.007). CONCLUSIONS: Coronary vasomotor disorders are highly prevalent among ANOCA patients. This study highlights the importance of increasing national awareness and the use of functional coronary angiography to evaluate and manage this unique cohort.

Psychological burden in patients with angina and unobstructed coronary arteries-underestimated, underexplored, undertreated.

Patients with angina and unobstructed coronary arteries (ANOCA) are frequently encountered in clinical practice. These cases represent a diagnostic and therapeutic challenge and are often characterized by a long patient journey until a diagnosis of coronary vasomotor disorders is established. Moreover, the unsatisfactory management of such patients leads to insecurity, ongoing symptoms, and psychological sequelae such as anxiety or depression. Currently, the psychological burden in patients with ANOCA is underestimated, underexplored, and undertreated. This review gives a new perspective on the pathophysiology of coronary vasomotor disorders including psychological risk factors and calls for comprehensive care by interdisciplinary ANOCA clinics.

Radiofrequency thermocoagulation as a treatment for hemifacial spasm: long-term follow-up and management of recurrences.

BACKGROUND: Radiofrequency thermocoagulation (RFT) is a treatment used to relieve symptoms of cranial nerve disorders. The current study is the first to describe the results of hemifacial spasm (HFS) patients with a history of repeated RFT in the second-largest consecutive single-center patient series with long-term follow-up. METHOD: This retrospective study was conducted in the largest hospital district in Finland (Helsinki and Uusimaa). Consecutive HFS patients who had an RFT to treat HFS in the Hospital District of Helsinki and Uusimaa between 2009-2020 were included. RESULTS: Eighteen patients with 53 RFTs were identified from the medical records. 11 (61 %) patients had repeated RFTs, and the mean number of RFTs per patient was 3.33 (3.29 SD). The mean follow-up was 5.54 years (7.5 SD). 12 (67 %) patients had had microvascular decompression (MVD) before RFT. Patients were satisfied with the results after 87 % of RFTs. Relief of the twitching of the face lasted 11.27 months (11.94 SD). All patients had postoperatively transient facial paresis. Postoperative paresis lasted a mean of 6.47 months (6.80 SD). The depth of paresis was postoperatively typically moderate (36.54 %, House Brackmann III). 23.08 % had mild paresis (House-Brackmann II), 23.08 % had moderately severe dysfunction (House-Brackmann IV), 9.62 % had severe dysfunction, and 7.69 % had total paralysis of the facial muscles (House-Brackmann VI). Duration of relief in the face twitching (p 0.002) and temperature at the final coagulation point (p 0.004) were statistically significant predictors of satisfaction with the RFT results. CONCLUSIONS: RFT can be used to treat recurrences of HFS repeatedly. It provides symptom relief for around 11 months, lasting four times longer than with botulinum toxin injections. Patients are satisfied, although an RFT produces transient, sometimes even severe, facial paresis.

A switch in the pathway of TRPC3-mediated calcium influx into brain pericytes contributes to capillary spasms after subarachnoid hemorrhage.

Calcium influx and subsequent elevation of the intracellular calcium concentration ([Ca2+]i) induce contractions of brain pericytes and capillary spasms following subarachnoid hemorrhage. This calcium influx is exerted through cation channels. However, the specific calcium influx pathways in brain pericytes after subarachnoid hemorrhage remain unknown. Transient receptor potential canonical 3 (TRPC3) is the most abundant cation channel potentially involved in calcium influx into brain pericytes and is involved in calcium influx into other cell types either via store-operated calcium entry (SOCE) or receptor-operated calcium entry (ROCE). Therefore, we hypothesized that TRPC3 is associated with [Ca2+]i elevation in brain pericytes, potentially mediating brain pericyte contraction and capillary spasms after subarachnoid hemorrhage. In this study, we isolated rat brain pericytes and demonstrated increased TRPC3 expression and its currents in brain pericytes after subarachnoid hemorrhage. Calcium imaging of brain pericytes revealed that changes in TRPC3 expression mediated a switch from SOCE-dominant to ROCE-dominant calcium influx after subarachnoid hemorrhage, resulting in significantly higher [Ca2+]i levels after SAH. TRPC3 activity in brain pericytes also contributed to capillary spasms and reduction in cerebral blood flow in an in vivo rat model of subarachnoid hemorrhage. Therefore, we suggest that the switch in TRPC3-mediated calcium influx pathways plays a crucial role in the [Ca2+]i elevation in brain pericytes after subarachnoid hemorrhage, ultimately leading to capillary spasms and a reduction in cerebral blood flow.

Anatomical considerations and surgical manipulation of the rhomboid lip in microvascular decompression for hemifacial spasm.

BACKGROUND: In microvascular decompression (MVD) procedures for hemifacial spasm (HFS), surgeons often encounter a rhomboid lip which may obscure the root exit zone (REZ) of the facial nerve. This study aims to explore the anatomical variations of rhomboid lips and their surgical implications to improve safety and effectiveness in MVD surgeries. METHODS: A retrospective analysis was conducted on 111 patients treated for HFS between April 2021 and March 2023. The presence of a rhomboid lip was assessed through operative video records, and its characteristics, dissection methods, and impact on nerve decompression outcomes were further examined. Preoperative magnetic resonance imaging (MRI) scans were reviewed for detectability of the rhomboid lip. RESULTS: Rhomboid lips were identified in 33% of the patients undergoing MVD, with a higher prevalence in females and predominantly on the left side. Two distinct types of rhomboid lips were observed: membranous and cystic variations. The membranous type was noted for its smaller size and position ventral to the choroid plexus. In contrast, the cystic variation was distinguished by its larger size and a thin membrane that envelops the choroid plexus. Preoperative MRI successfully identified rhomboid lips in only 21% of the patients who were later confirmed to have them in the surgical procedures. Surgical approaches primarily involved incisions on the dorsal wall and along the glossopharyngeal nerve root, with only limited need for extensive dissection from lower cranial nerves. Immediate spasm relief was observed in 97% of the patients. One case exhibited a lower cranial nerve deficit accompanied by brainstem infarction, which was caused by the dissection from the lower cranial nerves. CONCLUSIONS: Recognizing the two variations of the rhomboid lip and understanding their anatomical structures are essential for reducing lower cranial nerve injuries and ensuring effective nerve decompression.

Perioperative ROTEM® evaluation in a patient affected by severe VII factor deficiency undergoing microvascular decompression craniotomy for hemifacial spasm.

The potential use of TEG/ROTEM® in evaluating the bleeding risk for rare coagulation disorders needs to be assessed, considering the common mismatch among laboratory tests and the clinical manifestations. As a result, there is currently no published data on the use of viscoelastic tests to assess coagulation in FVII deficient patients undergoing elective neurosurgery. We describe the case of a patient affected by severe FVII deficiency who underwent microvascular decompression (MVD) craniotomy for hemifacial spasm (HFS). The ROTEM® did not show a significant coagulopathy according to the normal ranges, before and after the preoperative administration of the recombinant activated FVII, but a substantial reduction in EXTEM and FIBTEM Clotting Times was noted. The values of coagulation in standard tests, on the contrary, were indicative of a coagulopathy, which was corrected by the administration of replacement therapy. Whether this difference between ROTEM® and standard tests is due to the inadequacy of thromboelastographic normal ranges in this setting, or to the absence of clinically significant coagulopathy, has yet to be clarified. Neurosurgery is a typical high bleeding risk surgery; additional data is required to clarify the potential role for thromboelastographic tests in the perioperative evaluation of the FVII deficient neurosurgical patients.

Diffuse Esophageal Spasm: An Alternative Treatment Approach.

Diffuse esophageal spasm (DES) is a rare esophageal motility disorder characterized by abnormal contractions of the esophagus, leading to curling of the esophagus. The classic finding on barium swallow resembles that of the turns of a corkscrew. This case report presents a case of DES with impressive imaging and an alternative treatment approach. There are no well-established guidelines for the treatment of DES. Treatment options include surgical myotomy, oral medications to aid in smooth muscle relaxation, esophageal dilation, and several newer approaches such as endoscopic botulinum toxin injections. There is a need for less invasive treatment modalities that provide a solution, longer than the duration of action of an oral medication in patients who are not candidates for surgical intervention. This case report presents a complex and challenging case of DES in the context of multiple complicating comorbidities. This case is unique in demonstrating the successful management of a rare esophageal motility disorder in a high-risk patient using a more traditional, less invasive treatment approach. This case report presents a 91-year-old cachectic female with DES in the context of various comorbidities. Given her age, comorbidities, and current status, she was not a candidate for surgical intervention. After attempts at pharmacological therapy, the patient's dysphagia continued to worsen. Upper gastrointestinal endoscopy with pneumatic esophageal dilation was performed. The patient's swallowing improved in the days following endoscopic dilation.

Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.

OBJECTIVE: Recessive LAMC3 mutations are recognized to cause epilepsy with cortical malformations characterized by polymicrogyria and pachygyria. The objective of this study was to describe the clinical picture and epilepsy phenotype of four patients with a previously undescribed LAMC3 variant. METHODS: All epilepsy patients treated in Kuopio Epilepsy Center (located in Kuopio, Finland) are offered the possibility to participate in a scientific study investigating biomarkers in epilepsy (Epibiomarker study). We have collected a comprehensive database of the study population, and are currently re-evaluating our database regarding the patients with developmental and/or epileptic encephalopathy (DEE). If the etiology of epilepsy remains unknown in the clinical setting, we are performing whole exome sequencing to recognize the genetic causes. RESULTS: Among our study population of 323 DEE patients we recognized three patients with similar homozygous LAMC3 c.1866del (p.(Phe623Serfs*10)) frameshift variant and one patient with a compound heterozygous mutation where the same frameshift variant was combined with an intronic LAMC3 c.4231-12C>G variant on another allele. All these patients have severe epilepsy and either bilateral agyria-pachygyria or bilateral polymicrogyria in their clinical MRI scanning. Cortical malformations involve the occipital lobes in all our patients. Epilepsy phenotype is variable as two of our patients have DEE with epileptic spasms progressing to Lennox-Gastaut syndrome and intellectual disability. The other two patients have focal epilepsy without marked cognitive deficit. The four patients are unrelated. LAMC3 c.1866del p.(Phe623Serfs*10) frameshift variant is enriched in the Finnish population. SIGNIFICANCE: Only a few patients with epilepsy caused by LAMC3 homozygous or compound heterozygous mutations have been described in the literature. To our knowledge, the variants discovered in our patients have not previously been published. Clinical phenotype appears to be more varied than previously assumed and patients with a milder phenotype and normal cognition have probably remained unrecognized.