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Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent a distinct category of hematologic malignancies characterized by eosinophil-rich proliferations driven by specific gene rearrangements. Among these, the FIP1L1::PDGFRA fusion is one of the most clinically relevant due to its exquisite sensitivity to imatinib. Loeffler’s endocarditis, a complication of eosinophil-mediated endomyocardial damage, can lead to thromboembolic events including ischemic stroke. We report a case of a 56-year-old male who presented with acute onset of right homonymous hemianopia. Neurological evaluation revealed acute infarction in the left occipital lobe and thalamus. Subsequent workup demonstrated marked eosinophilia (absolute eosinophil count 3.05 × 10⁹/L, 43.4%), echocardiographic findings consistent with Loeffler’s endocarditis with left ventricular thrombus, and bone marrow eosinophilia (27.5%). Molecular testing confirmed the presence of FIP1L1::PDGFRA fusion, leading to a diagnosis of MLN-TK with FIP1L1::PDGFRA. Treatment with low-dose imatinib (100 mg daily) and enoxaparin resulted in rapid normalization of eosinophil counts and reduction in thrombus size. This case highlights the importance of recognizing eosinophil-associated cardiac and neurologic complications and underscores the diagnostic and therapeutic value of molecular testing in patients with unexplained stroke and eosinophilia.

ObjectiveTo summarize and analyze the clinical data of 12 Chinese patients of cerebral hemorrhage with bilateral sudden deafness as the first symptom and to explore the relationship between cerebral hemorrhage and bilateral sudden deafness.MethodsRetrospective analysis of clinical data of patients, including age, clinical manifestations, location of cerebral hemorrhage, hearing loss, and recovery.ResultsThe average age of onset in 12 patients was 53.92 years, 9 had a history of hypertension, 7 had a history of stroke, and 6 had typical stroke symptoms. There were 7 cases of basal ganglia hemorrhage; 2 cases of cerebellum hemorrhage; and 1 case of pontine hemorrhage, temporal lobe hemorrhage, and thalamus infarction. The auditory brainstem evoked potential test results of 3 patients were normal, and 5 of 6 patients who completed pure tone audiometry had hearing impairment. Five out of 9 patients had basically or completely recovered hearing.ConclusionThe results showed that patients were mostly middle-aged and elderly with no typical stroke symptoms, and a history of stroke and hypertension increased the risk of hearing loss. The cause of hearing loss in patients with cerebral hemorrhage may be related to the damage of the hearing conduction pathway or (and) the lack of blood supply to the central auditory nervous system. Detecting hearing impairment in time and actively intervening can help most patients to improve their hearing significantly. The degree of hearing damage and recovery is related to the bleeding site, the amount of bleeding, and the timely treatment.

Prostate cancer (PC) is a prevalent male malignancy with high occurrence rate. Recent studies have showed that small nucleolar host genes (SNHGs) and their homolog small nucleolar RNAs (snoRNAs) elicit regulatory functions in carcinogenesis. Present study aimed to investigate the role of SNHG17 and its homolog SNORA71B in PC. Function of SNHG17 and SNORA71B in PC is detected by CCK-8, colony formation, flow cytometry analysis of apoptosis, and transwell migration assay. The mechanism whereby SNHG17 regulated SNORA71B was detected by RIP, pulldown, ChIP, and luciferase reporter assays. Results depicted that transcript 6 of SNHG17 and SNORA71B were upregulated in PC. Knockdown of SNHG17 or SNORA71B weakened proliferation, invasion, migration, and epithelial-to-mesenchymal transition (EMT) and strengthened apoptosis. Mechanistically, SNHG17 and SNORA71B were transcriptionally activated by signal transducer and activator of transcription 5A (STAT5A). SNHG17 positively regulated SNORA71B in PC cell lines and other cell lines. SNHG17 sponged miR-339-5p to upregulate STAT5A and therefore to cause transactivation of SNORA71B. Rescue experiments delineated that SNORA71B was required for the regulation of SNHG17 on PC. Moreover, SNHG17 silence hindered tumorigenesis of PC in vivo. In conclusion, current study first revealed that lncRNA SNHG17 aggravated prostate cancer progression through regulating its homolog SNORA71B via a positive feedback loop, which might do help to the pursuit of better PC treatment.

BackgroundA subset of cancer patients receiving monoclonal antibody PD-1/PD-L1 inhibitors may develop immune checkpoint inhibitor (ICI)-related neurological complications, such as ICI-related myasthenia gravis(MG)-myositis overlap syndrome and ICI-related myocarditis. Standard management typically involves intravenous immunoglobulin (IVIG), plasma exchange (PE), and high-dose corticosteroids. The use of efgartigimod, a neonatal Fc receptor blocker, for the treatment of ICI-related MG-myositis overlap syndrome remains investigational, with only four relevant cases all representing overlap syndromes (MG with myositis, with or without myocarditis) — reported to date.ObjectiveThis report examines the therapeutic effect of efgartigimod in a patient with cervical cancer who developed ICI-related MG-myositis overlap syndrome after receiving tislelizumab, an anti-PD-1 antibody.MethodsClinical data from the patient was collected. Relevant laboratory tests and examinations were conducted. Efgartigimod treatment was administered, and clinical severity was evaluated using standardized assessment scales.ResultsA 69-year-old female with cervical cancer developed bilateral ptosis, dysarthria, and limb weakness following tislelizumab therapy. Examination revealed asymmetric ptosis, weak eye closure, and positive fatigability test. Serum creatine kinase was markedly elevated (553.82 U/L); electromyography showed myopathic changes with fibrillation potentials, while repetitive nerve stimulation was negative. Neostigmine test was positive, and anti-acetylcholine receptor antibodies were detected. She was diagnosed with ICI-related MG-myositis overlap syndrome. After four infusions of efgartigimod (10 mg/kg), creatine kinase normalized, the Activities of Daily Living (ADL) score decreased from 10 to 1, and the Quantitative Myasthenia Gravis (QMG) score improved from 16 to 5. The patient was asymptomatic at the 5 months follow-up with no need for a second treatment cycle.ConclusionEfgartigimod produced a positive therapeutic effect in this case with ICI-related MG-myositis overlap syndrome. The therapy was well-tolerated, and no adverse events were reported.

Multiple Acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset MADD are well responsive to treatment with riboflavin, which is also termed as riboflavin-responsive MADD (RR-MADD). In this study, we summarized the clinical profiles and genetic features of 13 Chinese patients with RR-MADD and reanalyzed the existing data on RR-MADD patients in Mainland China. In a cohort comprising 13 patients, all were seen to present with severe muscular symptoms occasionally accompanied with mild involvements of extramuscular organs. A total of 18 mutations (13 reported and 5 novel) of the ETFDH gene were identified in this series of patients. Exon deletion/duplication was not found in all patients. ETF:QO expression from the muscle specimens was significantly decreased in all patients. At the time of this study the total number of RR-MADD cases had reached 148 in Mainland China since 2009. The muscle symptoms in Mainland China were similar to those in other regions. However, the common extramuscular symptoms were fatty liver and recurrent vomiting in mainland Chinese patients rather than encephalopathy found in Caucasian patients. A total of 68 mutations had been identified in 148 patients with RR-MADD. The c.250G>A had a high mutation frequency in Southern China, whereas c.770A>G and c.1227A>C were more geographically widespread hot spot mutations in Mainland China.

Background. Previous studies have revealed that triglyceride-rich lipoprotein cholesterol (TRL-c) is closely related to diabetes mellitus (DM) in hypertensive patients. However, this relationship in stroke patients has not been reported. The aims of this study are to investigate the relationship between TRL-c and diabetes in adult Chinese stroke. Methods. Patients with stroke treated in the Department of Neurology of the Second Affiliated Hospital of Nanchang University from January 2019 to January 2021 were selected. TRL-c was calculated from total cholesterol minus (high-density and low-density lipoprotein). DM was diagnosed based on previous medical history (diagnosed by secondary hospitals or above) and/or current use of hypoglycemic drugs and/or intravenous blood glucose measurement (fasting blood glucose ≥7.0 mmol/L or nonfasting blood glucose > 11.1 mmol/L). The relationship between the TRL-c and DM was determined using multivariate logistic regression, smoothing curve fitting (penalized spline method), and subgroup analysis. Results. A total of 890 patients with stroke (age, 66.1 ± 11.8 years) were enrolled, including 329 females. Multivariate logistic regression analysis demonstrated that TRL-c had a positive association with DM (OR 1.88; 95% CI: 1.22 to 2.89). Strong linear associations of TRL-c with DM were confirmed by restricted cubic spline analysis. And the association between TRL-c and DM was consistent in the different subgroups. Conclusion. Positive associations were found between TRL-c and DM in patients with stroke.

Background Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Around 50 cases of NLSDM have been described worldwide, whereas the comprehensive understanding of this disease are still limited. We therefore recruit NLSDM patients from 10 centers across China, summarize the clinical, muscle imaging, pathological and genetic features, and analyze the genotype-phenotype relationship. Results A total of 45 NLSDM patients (18 men and 27 women) were recruited from 40 unrelated families. Thirteen patients were born from consanguineous parents. The phenotypes were classified as asymptomatic hyperCKemia (2/45), pure skeletal myopathy (18/45), pure cardiomyopathy (4/45), and the combination of skeletal myopathy and cardiomyopathy (21/45). Right upper limb weakness was the early and prominent feature in 61.5% of patients. On muscle MRI, the long head of the biceps femoris, semimembranosus and adductor magnus on thighs, the soleus and medial head of the gastrocnemius on lower legs showed the most severe fatty infiltration. Thirty-three families were carrying homozygous mutations, while seven families were carrying compound heterozygous mutations. A total of 23 mutations were identified including 11 (47.8%) point mutations, eight (34.8%) deletions and four (17.4%) insertions. c.757 + 1G > T, c.245G > A and c.187 + 1G > A were the three most frequent mutations. Among four groups of phenotypes, significant differences were shown in disease onset (< 20 years versus ≥20 years old, p  = 0.003) and muscle pathology (with rimmed vacuoles versus without rimmed vacuoles, p  = 0.001). PNPLA2 mutational type or functional defects did not show great impact on phenotypes. Conclusion We outline the clinical and genetic spectrum in a large cohort of NLSDM patients. Selective muscle fatty infiltration on posterior compartment of legs are characteristic of NLSDM. Chinese patients present with distinctive and relative hotspot PNPLA2 mutations. The disease onset age and pathological appearance of rimmed vacuoles are proved to be related with the clinical manifestations. The phenotypes are not strongly influenced by genetic defects, suggesting the multiple environmental risk factors in the development of NLSDM.

Background Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disorder characterized by multiple affected systems. More than half of SLE patients will suffer from neuropsychiatric lupus erythematosus (NPSLE) during the course of their disease. Although nearly half of the NPSLE patients have normal MRI manifestations, the abnormalities found in the remainder can be located anywhere in the brain, and especially in the subcortical white matter of the frontal and temporal lobe. However, NPSLE involving the medulla oblongata and spinal cord which presents as the “owl’s eye” sign has to our best knowledge not been reported to date. Case presentation A 19-year-old girl presented at our hospital with a 7-day history of fever and headache since a one day’s exertion, accompanied by 2 days of weakness. The patient had slurred speech. Neurological examination revealed the presence of horizontal nystagmus and a limitation of bilateral eye movement when looking up and down. At the same time, she showed difficulty in raising the jaw, accompanied by a weak pharyngeal reflex. Muscle strength was remarkably decreased in all four extremities: the MRCS grade of the upper limbs was 4/5, while in the lower limbs it was 0/5. Hypotonia was apparent in the lower extremities. Regarding subjective sensation, the patient appeared to be experiencing an increased sense of pain in the whole body, and especially in the cervical region, abdomen, and feet. An examination of shallow reflex documented the reinforcement of the abdominal reflex. Deep tendon reflexes were symmetric: absent in lower, normal in upper extremities. The patient also had a stiff neck with a positive Kernig’s sign. The laboratory examination showed elevated C - reactive protein and rheumatoid factor, as well as complement components 3 and 4. Symptomatic treatments were applied, but she did not respond well, after which we did immunological laboratory examinations. The results showed the presence of anti-nRNP/Sm, anti-dsDNA and anti-AMA M2 antibodies. An MRI scan and enhancement of the cervical and thoracic regions displayed abnormal signs in the medulla and bilateral anterior horn of the lower thoracic spine. Following the exclusion of other possible diseases, neuropsychiatric lupus was diagnosed. High-dose intravenous gamma-globulin combined with methylprednisolone gradually improved her condition. Conclusion We report the first case of NPSLE presenting with medulla oblongata and spinal cord involvement, manifesting as the “owl’s eye” sign in MRI.