CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence rate, insidious onset, and diverse clinical manifestations. It can be easily misdiagnosed and can go unrecognized by clinicians, leading to delayed treatment and worsened patient outcomes. CASE SUMMARY: A 38-year-old male was admitted to our hospital with a history of unabating unstable posture and difficulty in walking for more than 30 years. Subsequently based on the patient's medical history, clinical symptoms, magnetic resonance imaging and gene sequencing results, he was finally diagnosed with CTX. Due to the low incidence rate of the disease, clinicians have insufficient knowledge of it, which makes the diagnosis process more tortuous and prolongs the diagnosis time. CONCLUSION: Prompt diagnosis and treatment of CTX improve patient outcomes.

Involuntary movement in stiff-person syndrome with amphiphysin antibodies: A case report.

RATIONALE: Stiff-person syndrome (SPS) is a rare neurological immune disorder characterized by progressive axial and proximal limb muscle rigidity, stiffness, and painful muscle spasms. Amphiphysin antibodies are positive in approximately 5% of SPS patients. To date, there have been no relevant reports on involuntary movement in cases of SPS with amphiphysin antibodies. PATIENT CONCERNS: We describe the case of a 69-year-old man with a 2-year history of progressive stiffness in the neck, bilateral shoulders, and chest muscles, and a more-than-a-year history of dyspnea accompanied by mandibular involuntary movement. The patient was a vegetarian and had good health in the past. The family's medical history was unremarkable. DIAGNOSES: He was diagnosed with SPS based on the progressive muscle stiffness, the amphiphysin antibody seropositivity, the continuous motor activity on electromyography, and the effective treatment with benzodiazepines. INTERVENTIONS: The patient was orally administered clonazepam and baclofen, and corticosteroid IV followed by prednisone orally. OUTCOMES: In the hospital, after treatment with methylprednisolone, clonazepam, and baclofen, the patient's rigidity, stiffness, and dyspnea significantly improved. The involuntary movement of the mandible persisted throughout the treatment process. Currently, under oral treatment with baclofen and clonazepam, the patient's symptoms of muscle stiffness and dyspnea exist, and follow-up is continued. LESSONS: We report a rare and novel case of involuntary movement in SPS with amphiphysin antibodies. The present report explores the relationship between SPS and involuntary movement and expands the spectrum of clinical manifestations of SPS.

Disseminated histoplasmosis in primary Sjögren syndrome: A case report.

BACKGROUND: Sjögren syndrome (SS) is a chronic and systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands. And histoplasmosis is an invasive mycosis caused by the saprophytic dimorphic fungus H. capsulatum. In patients with primary SS (PSS), disseminated histoplasmosis (DH) is extremely rare. CASE SUMMARY: We report a 37-year-old female patient admitted to our hospital with exacerbating fatigue, somnolence, and pancytopenia as the main symptoms. She was eventually diagnosed with DH based on pancytopenia, splenomegaly, and findings of bone marrow smears. The atypical clinical symptoms made the diagnosis process more tortuous. Unfortunately, she died of respiratory failure on the day the diagnosis was confirmed. CONCLUSION: We present a rare and interesting case of DH in a PSS patient. This case updates the geographic distribution of histoplasmosis in China, and expands the clinical manifestations of DH in PSS, highlighting the significance of constantly improving the understanding of PSS with DH.

Recurrent Cerebral Infarctions in Primary Sjögren Syndrome: A Case Report and Literature Review.

Recurrent cerebral infarctions are extremely rare in patients with primary Sjögren syndrome. We report a 66-year-old woman who was admitted to our hospital due to acute cerebral infarction with exacerbation of dysphagia and right-sided hemiplegia as the main symptoms. In the past 3 months, she had developed cerebral infarction twice, even though she had no risk factors for atherosclerosis. She was eventually diagnosed with primary Sjögren syndrome based on a long history of dryness of the eyes and mouth, positive anti-Ro(SSA) antibodies, and the findings of a labial salivary gland biopsy. The response to pulse methylprednisolone therapy after recurrent cerebral infarctions was poor. Thus we consider primary Sjögren syndrome patients with central nervous system involvement should be treated as soon as possible.

Suspected brain metastasis from lung cancer mimicking intracerebral hemorrhage: A case report.

RATIONALE: Hemorrhage rarely occurs in a solitary brain metastasis from lung carcinoma. PATIENT CONCERNS: We report on a 54-year-old man who presented with a severe headache for 4 days. DIAGNOSES: Based on computed tomography and magnetic resonance imaging enhancement, the patient was diagnosed with a suspected hemorrhagic brain metastasis from lung carcinoma. INTERVENTIONS: The patient's family rejected a pathological examination. OUTCOMES: The patient's family requested discharge after diagnosis. LESSONS: The present case emphasizes the need to consider hemorrhagic metastasis as a differential diagnosis in patients presenting with solitary intracerebral hemorrhage whose location is uncommon, especially when the poor general state of the patient cannot be attributed to hypertensive intracerebral hemorrhage.

CD163 promotes hematoma absorption and improves neurological functions in patients with intracerebral hemorrhage.

Clinical outcomes are positively associated with hematoma absorption. The monocyte-macrophage scavenger receptor, CD163, plays an important role in the metabolism of hemoglobin, and a soluble form of CD163 is present in plasma and other tissue fluids; therefore, we speculated that serum CD163 affects hematoma absorption after intracerebral hemorrhage. Patients with intracerebral hemorrhage were divided into high- and low-level groups according to the average CD163 level (1,977.79 ± 832.91 ng/mL). Compared with the high-level group, the low-level group had a significantly slower hematoma absorption rate, and significantly increased National Institutes of Health Stroke Scale scores and modified Rankin Scale scores. These results suggest that CD163 promotes hematoma absorption and the recovery of neurological function in patients with intracerebral hemorrhage.

Early predictors and prevention for post-stroke epilepsy: changes in neurotransmitter levels.

BACKGROUND: The purpose of this study was to identify predictors and preventative treatments for post-stroke epilepsy (PSE). METHODOLOGY: Eighty-four patients who had suffered a cerebrovascular insult (within 72 hours) were recruited and divided into two groups: an EP group (patients with seizures after stroke) and a NEP group (patients without seizures after stroke). The NEP group was then subdivided into three groups: a control group, a GABA (γ-aminobutiric acid) group (received GABA orally), and a CCB group (received calcium channel blocker nimodipine orally). Patient groups were compared by gender, age, past medical history, stroke type, number of lesions, and position and stroke severity (using Scandinavian stroke scale, SSS). Forearm venous blood was sampled, and high performance liquid chromatography (HPLC) was used to measure plasma levels of neurotransmitters and Ca2+. Patients then received 14 days of drug intervention. One month after drug withdrawal, GABA, glutamate (Glu) and Ca2+ concentrations in plasma were measured again. RESULTS: The number of previous strokes, size of infarction, presence of multiple lesions, localization to the cortex, and SSS were statistically significant between the two groups (P < 0.05). In the EP group, the Glu concentration was greater and the Ca2+ concentration was lower than in the NEP group (P < 0.05). The results obtained after 1 month of therapy showed a reduction in Glu levels and an increase in GABA levels in the GABA group relative to the control NEP group (P < 0.05), while the CCB group showed a decrease in the concentration of Glu and an increase in the concentrations of GABA and Ca2+ relative to the NEP control group (P < 0.05). CONCLUSIONS: We identified susceptibility factors for PSE and demonstrated that GABA and calcium antagonists may have a therapeutic use in the early prevention of PSE.

Myoclonic epilepsy with ragged-red fibers: A case report.

Myoclonic epilepsy with ragged-red fibers is a maternally inherited disease that is characterized by myoclonic epilepsy, cerebellar ataxia and progressive muscular weakness. The present study reports the case of a 25-year-old male who presented with paroxysmal left upper limb tics and weakness for two years. Neurological examination revealed intact cranial nerves, decreased deep tendon reflexes and decreased sensation of touch, pain and vibration. The gait of the patient was broad and he was unable to walk in a straight line. Local cortical atrophy was also observed in the left temporal-occipital cortex on a magnetic resonance imaging scan. The muscle biopsy revealed ragged-red fibers. Therefore, the present study hypothesized that imaging observations and follow-up examinations are important in patients with myoclonic epilepsy.

[Effect of exogenous calcium on seed germination and seedling physiological characteristics of Lycium ruthenium].

OBJECTIVE: In order to get the method for improving the salt resistance of Lycium ruthenium seeds and seedlings under NaCl stress, the seed germination and physiological characteristics of L. ruthenium seedlings was studied. METHOD: Several physiological indexes of L. ruthenium seeds under NaCl stress, such as the germination rate (Gr), germination vigor (Gv), germination index (Gi), vigor index (Vi), and relative salt damage rate were measured. Other indexes of the seedlings like relative water contents (RWC) , chlorophyll contents, soluble protein contents, electrolyte leakage, the contents of malondialdehyde (MDA), and peroxidase (POD) were also measured. RESULT: NaCl at lower concentration could promote the seed germination but inhibit the seed germination at higher concentration. After the treatment by CaCl2 at the different concentrations, all germination indexes were increased. With the increase of salt concentration, the relative water contents and the contents of chlorophyll were decreased, the content of MDA and electrolyte leakage were increased. The change trend of POD activity showed the first increase and then decrease with the increase of salt concentration, which was similar to that of the soluble protein. After the treatment by CaCl2, relative water contents, chlorophyll and POD activities were decreased more slowly, and also electrolyte leakage and MDA contents increased slowly. CONCLUSION: The CaCl2 could significantly alleviate the damages to the seeds and seedlings of L. ruthenium under NaCl stress, and promote the salt resistance to the seeds and seedlings of L. ruthenium.

Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: a case report and literature review.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with an autosomal recessive mode of inheritance. We report a case of rare adult-onset LBSL with typical magnetic resonance imaging (MRI) features. The DARS2 gene mutation analysis has identified a c. 228-20_21delTTinsC (p.R76SfsX5) mutation and a c. 850G > A (p. 284E > K) mutation. With glucocorticosteroid treatment the patient has had improvement in bladder symptoms. This is the first reported adult-onset LBSL case in the Chinese Han population. A review of the literature suggests that brain lactate elevation in adult-onset LBSL is lower than early-onset cases (P < 0.01), and early-onset cases show mild intelligence and cognition decline. These observations suggest that age of onset and brain lactate levels probably influence the prognosis of LBSL.

Association between epileptiform discharges and the sleep cycle in 200 epileptic patients.

OBJECTIVE: The poor sleep quality of epileptic patients may be partly due to the occurrence epileptiform discharges (EDs). We observed the number of interictal discharges in each sleep stage and explored the associations between EDs and sleep phases in epileptic patients. METHODS: Two hundred epileptic patients and 182 healthy volunteers were enrolled in the current study. For all subjects, video electroencephalography (EEG) monitoring and 24-hr night polysomnography were conducted to detect EDs and analyze the sleep structures. RESULTS: EDs were detected in 91% of epileptic patients with the most frequent cases from the temporal lobe. The EDs detected during waking, sleeping, or both waking and nonrapid eye movement (NREM) sleep stages 1-2 accounted for 7.1%, 19.2%, and 25.3% of the total patients, respectively. EDs were rare during NREM stages 3-4 with 1.1% of total patients mainly in the central-temporal lobe. The total sleep time and time spent in REM were similar between the epileptic patients and healthy volunteers. However, epileptic patients spent a significantly longer mean sleep time in NREM stages 1-2 (293.91 ± 27.57 min vs. 223.17 ±15.28; p = .000) and less in NREM stages 3-4 (50.11 ± 12.12 min vs. 133.96 ± 10.77; p = .000) than healthy volunteers. Furthermore, asymmetric sleep spindles and fragmentary sleep structure as well as high inversion frequency were found in 26.7% and 43.3% of epileptic patients, respectively. CONCLUSION: Combination of long-term video EEG with polysomnography is a useful method to analyze associations between EDs and the sleep-wake cycle. This strategy can also help identify the nature of sleep disorders in epileptic patients, which may improve the treatment efficacy.

Sphere-forming tumor cells possess stem-like properties in human fibrosarcoma primary tumors and cell lines.

Fibrosarcoma is a malignant soft tissue tumor of mesenchymal origin. Despite advances in medical and surgical treatment, patient survival rates have remained poor. According to the cancer stem cell hypothesis, tumors are comprised of heterogeneous cell populations that have different roles in tumor formation and growth. Cancer stem cells are a small cell subpopulation that exhibits stem-like properties to gain aggressiveness and recurrence. These cells have been identified in a variety of cancerous tumors, but not in human fibrosarcoma. In this study, we observed that HT1080 cells and primary fibrosarcoma cells formed spheres and showed higher self-renewal capacity, invasiveness and drug resistance compared with their adherent counterparts. Moreover, we demonstrated that the cells showed higher expression of the embryonic stem cell-related genes Nanog, Oct3/4, Sox2, Sox10 and their encoding proteins, as well as greater tumorigenic capacity in nude mice. In conclusion, our data suggest the presence of a stem-like cell population in human fibrosarcoma tumors, which provides more evidence for the cancer stem cell hypothesis and assistance in designing new therapeutic strategies against human fibrosarcoma.