Clinical Characteristics and Treatment of Listeria monocytogenes Infections in the Central Nervous System.

Purpose: Listeria monocytogenes infections are rare in the central nervous system (CNS) and frequently difficult-to-diagnose. Our goal is to assess CNS listeriosis patients' clinical characteristics, diagnosis, treatment, and prognosis. Patients and Methods: Patients with CNS listeriosis admitted to the Department of neurology, the first medical center of the Chinese PLA general hospital, were enrolled in this study from March 2018 to August 2022. Results: This study analyzed eight adults, including five males and three females. The average age of onset was (50.25 ± 11.52) years. The clinical manifestations included fever, headache, altered mental status, vomiting, seizures, neck rigidity, hemiplegia and cranial nerve palsies. Cerebrospinal fluid (CSF) tests revealed intracranial hypertension, elevated cell count and protein concentration, and decreased glucose levels. The positive rates of blood and CSF culture were 40% and 28.57%, respectively. All patients underwent CSF metagenomic next-generation sequencing (mNGS), with a 100% positive rate and the specific read number 12-20394. Magnetic resonance imaging (MRI) exhibited leptomeningitis, meningoencephalitis, and brain abscess, and no specific changes were discovered in two patients. All patients received antibiotic treatment, seven were cured, and one died. Conclusion: Monitoring the proportion of monocytes in blood and mNGS results of CSF can play a crucial role in diagnosing pathogens. Early and sufficient application of two to three sensitive antibiotics with a BBB permeability of 20-30% for at least 2-3 months can significantly improve CNS listeriosis prognosis.

Symptomatic trigeminal autonomic cephalalgias in neuromyelitis optica spectrum disorders.

BACKGROUND: The pathophysiology of trigeminal autonomic cephalalgias (TACs) is poorly understood at present. Symptomatic TACs are rarely reported in neuromyelitis optica spectrum disorders (NMOSD). To better clarify this distinct clinical manifestation in NMOSD and to investigate its possible pathophysiology, we reviewed articles describing such cases including our own case. METHODS: We performed a search of all clinical studies of TACs in NMOSD published up to September 1st, 2022. We put no restrictions on the year of English publication in our search. The following keywords were searched: trigeminal autonomic cephalalgias, cluster headache, short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT), short-lasting unilateral neuralgiform headache with autonomic symptoms (SUNA), hemicrania continua, paroxysmal hemicrania, neuromyelitis optica, neuromyelitis optica spectrum disorder, Devic's disease. RESULT: We reviewed six cases (five published reports and our own case study) that fulfilled the diagnosis of NMOSD and TACs. Four of them were SUNCT, one was SUNA, and one was paroxysmal hemicrania. In three of these cases, headache was the initial sole manifestation. Only one case had a good response to routine TACs' treatment. All these patients had lesions in the medulla oblongata and cervical cord. Three cases' TACs were side-locked, and two of them had a left dorsolateral medulla oblongata lesion that corresponded with the left side TACs, while three cases' headaches happened on either side of the head. The phenomenon could be explained by the activation of trigeminal-autonomic reflex and ephaptic coupling. CONCLUSION: TACs could be the initial sole brainstem manifestation of NMOSD. An underlying cause for SUNCT/SUNA should be considered, especially if there is a limited response to anti-epileptic medication. The activation of trigeminal-autonomic reflex and ephaptic coupling might be the underlying mechanism of symptomatic TACs in NMOSD.

Similarities and differences between SUNCT and SUNA: a cross-sectional, multicentre study of 76 patients in China.

BACKGROUND: Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) have not been evaluated sufficiently due to limited data, particularly in China. METHODS: Patients with SUNCT or SUNA treated in a tertiary headache centre or seven other headache clinics of China between April 2009 and July 2022 were studied; we compared their demographics and clinical phenotypes. RESULTS: The 45 patients with SUNCT and 31 patients with SUNA had mean ages at onset of 37.22 ± 14.54 years and 42.45 ± 14.72 years, respectively. The mean ages at diagnosis of SUNCT and SUNA were 41.62 ± 12.70 years and 48.68 ± 13.80 years, respectively (p = 0.024). The correct diagnosis of SUNCT or SUNA was made after an average of 2.5 (0-20.5) years or 3.0 (0-20.7) years, respectively. Both diseases had a female predominance (SUNCT: 1.14:1; SUNA: 2.10:1). The two diseases differed in the most common attack site (temporal area in SUNCT, p = 0.017; parietal area in SUNA, p = 0.002). Qualitative descriptions of the attacks included stabbing pain (44.7%), electric-shock-like pain (36.8%), shooting pain (25.0%), and slashing pain (18.4%). Lacrimation was the most common autonomic symptom in both SUNCT and SUNA patients, while eyelid oedema, ptosis, and miosis were less frequent. Triggers such as cold air and face washing were shared by the two diseases, and they were consistently ipsilateral to the attack site. CONCLUSIONS: In contrast to Western countries, SUNCT and SUNA in China have a greater female predominance and an earlier onset. The shared core phenotype of SUNCT and SUNA, despite their partial differences, suggests that they are the same clinical entity.

Pre-attack and pre-episode symptoms in cluster headache: a multicenter cross-sectional study of 327 Chinese patients.

BACKGROUND: There have been a few studies regarding the pre-attack symptoms (PAS) and pre-episode symptoms (PES) of cluster headache (CH), but none have been conducted in the Chinese population. The purpose of this study was to identify the prevalence and features of PAS and PES in Chinese patients, as well as to investigate their relationships with pertinent factors. METHODS: The study included patients who visited a tertiary headache center and nine other headache clinics between January 2019 and September 2021. A questionnaire was used to collect general data and information about PAS and PES. RESULTS: Among the 327 patients who met the CH criteria (International Classification of Headache Disorders, 3rd edition), 269 (82.3%) patients experienced at least one PAS. The most common PAS were head and facial discomfort (74.4%). Multivariable logistic regression analysis depicted that the number of triggers (OR = 1.798, p = 0.001), and smoking history (OR = 2.067, p = 0.026) were correlated with increased odds of PAS. In total, 68 (20.8%) patients had PES. The most common symptoms were head and facial discomfort (23, 33.8%). Multivariable logistic regression analysis showed that the number of triggers were associated with increased odds of PES (OR = 1.372, p = 0.005). CONCLUSIONS: PAS are quite common in CH patients, demonstrating that CH attacks are not comprised of a pain phase alone; investigations of PAS and PES could help researchers better understand the pathophysiology of CH.

Bilateral parafalcine cortical and leptomeningeal impairment in MOG antibody disease and AQP4 neuromyelitis optica.

OBJECTIVE: Bilateral parafalcine cortical and leptomeningeal impairment (BPCLI) is a rare finding observed in cases of myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD) and neuromyelitis optica spectrum disorders (NMOSD). The failure to recognize BPCLI may lead to misdiagnosis and delayed treatment. This study aimed to delineate the clinical and imaging characteristics of patients with BPCLI. METHODS: Clinical data from a cohort of 366 patients diagnosed with NMOSD or MOGAD were retrospectively reviewed. Subsequently, the clinical features of the seven patients with BPCLI were analyzed. RESULTS: Of the 366 patients, 33 had MOGAD, whereas 264 were positive for antibodies (Abs) against aquaporin-4 (AQP4) and had NMOSD. BPCLI was detected in five patients (15.1%) with MOGAD and two patients (0.7%) with AQP4-Ab-positive NMOSD. All seven patients (four males) presented with meningoencephalitis-like symptoms at the time of BPCLI. Six patients had seizures, and three of them also presented with fever. Three patients were misdiagnosed with intracranial infection, and one was misdiagnosed with cerebral venous thrombosis. Analysis of the cerebrospinal fluid revealed elevated total protein levels in two patients and increased leukocyte counts in five. In addition to BPCLI, impairments in the hippocampus and corpus callosum were confirmed in one and four patients, respectively. Moreover, five patients exhibited meningeal enhancement, and two showed callosal enhancement. In all cases, BPCLI attacks responded well to high-dose methylprednisolone or immunoglobulin therapy. CONCLUSIONS: BPCLI can be observed in both MOGAD and AQP4 NMOSD. It appears to be characteristic of MOGAD but is relatively rare in AQP4 NMOSD. These findings should be noted to avoid misdiagnosis.

Lower motor neuron involvement in patients with neuromyelitis optica spectrum disorders.

BACKGROUND: Involvement of the central gray matter of spinal cord is a characteristic magnetic resonance imaging (MRI) feature of aquaporin-4-immunoglobulin G antibodies (AQP4-IgG) positive neuromyelitis optica spectrum disorders (NMOSD). However, there has been no systemic electrophysiological study investigating the frequency of lower motor neuron involvement in NMOSD patients. METHODS: We retrospectively reviewed a cohort of 59 NMOSD patients with results of concentric needle electromyography (EMG) and nerve conduction studies (NCS) that were admitted to the Department of Neurology of Chinese PLA General Hospital between January 2016 and December 2019. RESULTS: Acute and/or chronic denervation was found in 22.0% (13/59) of the NMOSD patients by EMG. Peripheral or cranial neuropathy indicated by abnormal NCS changes was found in 11.9% (7/59) of the NMOSD patients. Denervation indicated by EMG that can be accounted for by abnormal NCS was found in 6.8% (4/59) of the NMOSD patients, while 3.4% (2/59) of the NMOSD patients had NCS abnormality without denervation indicated by EMG. Accordingly, 9 of the 59 NMOSD patients (15.3%) had lower motor neuron involvement, and moreover, 6.8% (4/59) of the NMOSD patients had corresponding spinal cord or brainstem lesions on MRI. CONCLUSION: Not uncommon lower motor neuron involvement exists in NMOSD patients, so needle EMG and NCS studies should be performed in NMOSD patients with suspected lower motor neuron involvement.

Pruritus in neuromyelitis optica spectrum disorders and multiple sclerosis.

PURPOSE: Differential diagnosis between neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) at early stage remains challenging at present. Pruritus is reported as a common or specific feature in NMOSD with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). We aim to verify whether pruritus can help in distinguishing NMOSD from MS. METHODS: We retrospectively reviewed the medical records of consecutive cases of NMOSD and MS patients, demographic data, clinical features, whether or not had pruritus, serum AQP4-IgG status and magnetic resonance imaging (MRI) results. RESULTS: 21.0% (22/105) of NMOSD patients and 2.1% (2/96) of MS patients reported pruritus during disease course (p < 0.01). 20.5% (18/88) of AQP4-IgG positive and 23.5% (4/17) of AQP4-IgG negative NMOSD patients reported pruritus during disease course (p = 0.775). 12.4% (13/105) of NMOSD and 1.0% (1/96) of MS patients reported pruritus at the first attack episode of disease (p < 0.01). 20.0% (21/105) of NMOSD and 1.0% (1/96) of MS patients reported pruritus at the first and second attack episodes of disease (p < 0.01). CONCLUSION: Pruritus is a common and relatively specific feature in either AQP4-IgG positive or negative NMOSD. Pruritus occurs more frequently in NMOSD than MS, which may help in distinguishing NMOSD from MS, especially at early stage.

Application of the 2015 neuromyelitis optica spectrum disorders diagnostic criteria in a cohort of Chinese patients.

BACKGROUND: There is no validation study evaluating 2015 International Panel for neuromyelitis optica (NMO) spectrum disorders (NMOSD) diagnosis (IPND) criteria in Chinese population. The association of myelin oligodendrocyte glycoprotein-immunoglobulin-G (MOG-IgG) with NMOSD was also not investigated in previous validation studies. Hence, we aimed to validate the 2015 NMOSD criteria in a cohort of Chinese patients, and to assess the association between MOG-IgG and NMOSD. METHODS: We applied both the 2006 NMO and the 2015 NMOSD diagnostic criteria to all suspected NMOSD inpatients at the Department of Neurology of Chinese PLA general hospital diagnosed between 2016 and 2019. Demographics, core clinical features, AQP4-IgG and MOG-IgG status were retrieved and analyzed. RESULTS: A total of 185 patients fulfilling the 2015 NMOSD criteria (154 AQP4-IgG positive, 23 AQP4-IgG negative, 8 AQP4-IgG status unknown) were included, whereas only 43.2% (80/185) fulfilled the 2006 NMO criteria. After assuming all the NMOSD patients with unknown AQP4-IgG status, 69.7% (129/185) still fulfilled the 2015 NMOSD criteria, whereas only 39.5% (73/185) met the 2006 NMO diagnostic criteria (p < 0.001). Most NMOSD patients (n = 55, 29.7%) disqualified because of not meeting the criterion of dissemination in space. The median time to diagnosis was 3 months (129 patients, range: 1-145 months) by the 2015 NMOSD criteria and 10 months (73 patients, range: 1-185 months) by the 2006 NMO criteria (log rank test: p = 0.002). Positive MOG-IgG was found in 28.6% (4/14) of the AQP4-IgG negative and 2.8% (1/36) of the AQP4-IgG positive NMOSD patients (p = 0.006). NMOSD with MOG-IgG was more frequently in male (3/1 vs. 2/33, p = 0.004) and with younger onset age (24.8 vs. 41.4, p = 0.045), in comparison with NMOSD with AQP4-IgG. CONCLUSION: The 2015 NMOSD criteria markedly improved the diagnostic rate and reduced the time taken to diagnosis in a cohort of Chinese patients, even with unknown AQP4-IgG status, in comparison with the 2006 NMO criteria. Not meeting the criterion of dissemination in space, that is, having isolated core clinical feature, was the main factor precluding NMOSD diagnosis under assumption of unknown AQP4-IgG status. NMOSD with MOG-IgG was not uncommon in NMOSD without AQP4-IgG and had unique features regarding gender predominance and onset age.

Metagenomic Next-Generation Sequencing for Diagnosis of Infectious Encephalitis and Meningitis: A Large, Prospective Case Series of 213 Patients.

Purpose: We assessed the performance of metagenomic next-generation sequencing (mNGS) in the diagnosis of infectious encephalitis and meningitis. Methods: This was a prospective multicenter study. Cerebrospinal fluid samples from patients with viral encephalitis and/or meningitis, tuberculous meningitis, bacterial meningitis, fungal meningitis, and non-central nervous system (CNS) infections were subjected to mNGS. Results: In total, 213 patients with infectious and non-infectious CNS diseases were finally enrolled from November 2016 to May 2019; the mNGS-positive detection rate of definite CNS infections was 57.0%. At a species-specific read number (SSRN) ≥2, mNGS performance in the diagnosis of definite viral encephalitis and/or meningitis was optimal (area under the curve [AUC] = 0.659, 95% confidence interval [CI] = 0.566-0.751); the positivity rate was 42.6%. At a genus-specific read number ≥1, mNGS performance in the diagnosis of tuberculous meningitis (definite or probable) was optimal (AUC=0.619, 95% CI=0.516-0.721); the positivity rate was 27.3%. At SSRNs ≥5 or 10, the diagnostic performance was optimal for definite bacterial meningitis (AUC=0.846, 95% CI = 0.711-0.981); the sensitivity was 73.3%. The sensitivities of mNGS (at SSRN ≥2) in the diagnosis of cryptococcal meningitis and cerebral aspergillosis were 76.92 and 80%, respectively. Conclusion: mNGS of cerebrospinal fluid effectively identifies pathogens causing infectious CNS diseases. mNGS should be used in conjunction with conventional microbiological testing. Trial Registration: Chinese Clinical Trial Registry, ChiCTR1800020442.

Aseptic meningitis as an atypical manifestation of neuromyelitis optica spectrum disorder flare.

BACKGROUND: Inflammatory demyelinating disease of the central nervous system characterized by aseptic meningitis is rare and can be easily confused with intracranial infection. Here, we investigated the clinical features of neuromyelitis optica spectrum disorder (NMOSD) patients with a meningitis-like presentation. METHODS: From a total of six attacks, five patients were identified. Their demographic, clinical, and magnetic resonance imaging (MRI) findings, as well as treatments and prognoses were retrospectively analyzed. RESULTS: Five patients (two males with myelin oligodendrocyte glycoprotein [MOG] antibody and three females with aquaporin-4 [AQP4] antibody) experienced six attacks. Average age at onset was 31.5 ± 3.5 years-old. The earliest clinical manifestations included fever (6/6), headache (5/6), and meningeal irritation (6/6) accompanied by leukocytosis and elevated protein levels (6/6) in cerebrospinal fluid. Two attacks initially manifested as meningitis alone. Meanwhile, following the onset of meningitis-like symptoms, four attacks were accompanied by transverse myelitis on the same day. One attack was associated with leptomeningeal enhancement on MRI, four attacks with spinal meninges enhancement, and one with both leptomeningeal and spinal meninges enhancement. All patients were considered to have an intracranial infection at onset and consequently treated with anti-infective drugs. As the symptoms continuously deteriorated, flare-up of NMOSD was considered a more reasonable diagnosis. Application of glucocorticoids (with or without intravenous immunoglobulin therapy) quickly relieved the symptoms. Subsequent re-examination of cerebrospinal fluid and MRI showed significant improvements. CONCLUSION: Aseptic meningitis may be an atypical phenotype of NMOSD flare that is easily confused with specific infection. Comprehensive evaluation to exclude an infective etiology and enable accurate diagnosis and timely immunotherapy are critical to prognosis.

Brain Atrophy Associated with Primary Diffuse Meningeal Melanomatosis.

BACKGROUND: Primary meningeal melanomatosis is a rare leptomeningeal tumor, and the diagnosis is challenging due to nonspecific clinical symptoms and radiologic findings. CASE DESCRIPTION: A 21-year-old man presented with recurrent seizure and impaired memory. Cranial magnetic resonance imaging showed obvious brain atrophy with bilateral extensive meningeal enhancement in the supratentorial region. Diffusion-weighted imaging and fluid-attenuated inversion recovery showed slightly hyperintensive signals in the cortex. Microscopic examination revealed invasion of pigment into the Virchow-Robin space and cortex. Immunohistochemical examination of biopsy samples showed that cells were immunopositive for HMB45 and S-100 and immunonegative for melan-A with a Ki-67-positive percentage of 3%. No obvious atypia or nuclear mitosis was observed. Pathohistologic results of biopsied meninges confirmed the diagnosis of diffuse meningeal melanomatosis. The disease was aggravated with the occurrence of brain atrophy, recurrent seizure, and declined higher cortical function. CONCLUSIONS: This case report illustrates that brain atrophy in meningeal melanomatosis is associated with a progressive decline of higher cortical function.

Prevalence and risk factors associated with headache amongst medical staff in South China.

BACKGROUND: A previous study by our team reported the prevalence of primary headache disorders and factors associated with headache among nurses in three hospitals in North China. The aim of this cross-sectional survey was to learn more about how medical nurses in South China were affected by headache. Additionally, we determined the prevalence of headache and measured the impact of headache among doctors in mainland China for the first time. METHODS: Stratified random cluster sampling was used to select 280 physicians and 365 nurses from various departments in four hospitals in Sanya, which is one of southernmost cities in China. Information was collected on demographic data, occupational factors and headache characteristics by using a structured questionnaire. RESULTS: Among 645 medical staff, 548 (85%) responded (doctors = 240, nurses = 308). Among the medical staff, the 1-year prevalence of primary headache disorders was 50%, with 25.9% experiencing migraine and 24.1% experiencing tension-type headache (TTH). The prevalence of migraine in female doctors was higher than that in female nurses, although this difference was not significant (32.4% vs. 29.8%, P = 0.628). Multivariate analysis showed that being female and working in other specialties (Emergency Department & Radiology Department) remained independent risk factors for migraine in doctors (OR 2.314 and 3.223). In nurses, being married was a risk factor for migraine (OR 3.728), and job titles remained an independent risk factor for migraine and TTH (OR 2.294 and 4.695). Working more than 6 night-shifts per month was associated with an increased prevalence of migraine and TTH in doctors; the same was true in nurses for migraine, but not for TTH. CONCLUSION: The prevalence of primary headache disorders in both nurses and doctors is higher than that in the general population in South China. Our study shows that occupation, geography and sex may play an important role. Further, female doctors are more susceptible than female nurses to migraine. The risk factors relevant to headache that were found in this study should provide an important reference for promoting occupational health in medical staff, especially female doctors in China.

Neuromyelitis optica spectrum disorder occurred after interferon alpha therapy in malignant melanoma.

BACKGROUND: Several cases of neuromyelitis optica spectrum disorder (NMOSD) caused by interferon alpha (IFN-α) treatment in hepatitis C were reported in past literatures, but NMOSD resulted from IFN-α treatment in tumor has not yet been reported previously. METHODS: A unique case of NMOSD caused by IFN-α therapy in malignant melanoma is presented. Related cases about NMOSD caused by IFN-α therapy on Pubmed were reviewed further. RESULTS: A 40-year-old Chinese woman was diagnosed as right breast skin malignant melanoma and received melanoma resection in April 2012, then underwent IFN-α-2b therapy (5 million IU every time, 3 times/week) from May 2012 to Sep 2016. In December 2016, the patient developed bilateral optic neuritis, with no light perception at her worst. After a month-long glucocorticoid treatment, she could see finger movement from 40 cm. Serum positive anti-AQP-4 antibody was found by enzyme-linked immunosorbent assay (ELISA, 75.9 u/ml) in Feb 2017 and indirect immunofluorescence testing (IIFT, 1:320) in Sep 2017. Methylprednisolone (8 mg/day) and rituximab (0.1 g/every 6 months) were used for prevention. On the follow up visit in Jan 2019, she could see finger movement from 1 m, and no melanoma and NMOSD relapse were complained. Literature review only found 3 cases of NMOSD caused by IFN-α treatment in hepatitis. CONCLUSIONS: A unique case of NMOSD with positive anti-AQP-4 antibody after IFN-α treatment in malignant melanoma was reported. Type I IFNs may be pro-inflammatory in NMOSD and this possible consequence of IFNs use should be cautioned in future practice.

Suspected bacterial meningoencephalomyelitis as the trigger or presentation of neuromyelitis optica spectrum disorder flare.

BACKGROUND: Suspected bacterial meningoencephalomyelitis as the presentation or trigger of neuromyelitis optica spectrum disorders (NMOSD) flare has not been reported in literature. CASE PRESENTATION: A 29 year old female, who has a history of neuromyelitis optica spectrum disorder (NMOSD) for 6 years, presented with symptoms of meningitits, encephalitis, myelitis, headache and fever. Cerebrospinal fluid analysis revealed pleocytosis (1131 × 106/L [83% neutrophils]) and a glucose level of 39.6 mg/dl. Magnetic resonance imaging revealed lesions in the cervical cord, medulla, right frontal-parietal lobe, and corpus callosum. Serum anti-aquaporin-4 (AQP-4) antibody was positive. An initial diagnosis of bacterial meningoencephalomyelitis was considered. Despite broad-spectrum antimicrobial therapy, her neurologic symptom continued to deteriorate. Intravenous gamma immunoglobulin and methylprednisolone was initiated, which improved her symptoms rapidly. CONCLUSION: Suspected bacterial meningoencephalomyelitis as the presentation or trigger of NMOSD flare was considered in our case. Literature review revealed that bacterial meningitis-like presentation was a rare presentation in the attack phase of NMOSD. Corticosteroid therapy should be initiated in such cases.

Alterations of White Matter Connectivity in Preschool Children with Autism Spectrum Disorder.

Purpose To investigate the topologic architecture of white matter connectivity networks in preschool-aged children with a diagnosis of autism spectrum disorder (ASD) versus typical development (TD). Materials and Methods Forty-two participants were enrolled, including 21 preschool children with ASD (14 male children and seven female children; mean age, 4.56 years ± 0.97 [standard deviation]) and 21 children with TD (11 males and 10 females; mean age, 5.13 years ± 0.82). The diagnosis of ASD was determined according to the Diagnostic and Statistical Manual of Mental Disorders Global Assessment of Functioning scores (mean score, 8.00 ± 0.50). All participants underwent diffusion-tensor imaging (DTI) and T2-weighted imaging on a 3-T magnetic resonance system. A graph theoretical analysis was applied to investigate the topologic organization of the brain network including global and local topologic parameters. Statistical analysis was then performed for the comparison between the groups. Results Compared with the TD group, children with ASD demonstrated shortened characteristic path length (t1 = 0.536, t2 = 0.534, t3 = 0.523, t4 = 0.510, and t5 = 0.501; P < .05) and increased global efficiency (t1 = 0.499, t2 = 0.497, t3 = 0.486, t4 = 0.473, and t5 = 0.465; P < .05) and clustering coefficient (t1 = 0.673, t2 = 0.750, t3 = 0.757, t4 = 0.738, and t5 = 0.741; P < .05). Significant increases in nodal efficiency were mainly found in left pallidum (0.037 vs 0.032, respectively; P < .01) and right caudate nucleus (0.037 vs 0.032, respectively; P < .01) of the basal ganglia network. Conclusion Significantly altered patterns of global and local brain network topography may underlie the abnormal brain development in preschool children with ASD compared with those who have TD. The identification of altered structural connectivity in basal ganglia and paralimbic-limbic networks may point toward potential imaging biomarkers for preschool-age patients with ASD. © RSNA, 2018.

Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.

Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations. The novel de novo splice alteration c.664 + 2T > G in the DEAF1 gene and the novel de novo missense mutation c.95 C > T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.

A case report of cough headache with transient elevation of intracranial pressure and bilateral internal jugular vein valve incompetence: A primary or secondary headache?

Background Primary cough headache (PCH) is precipitated by coughing or the Valsalva manoeuver (VM), and its underlying pathophysiology remains unclear. Case report We report a case of recurrent cough headaches precipitated by VM with transient increase of intracranial pressure (ICP) diagnosed by measuring left sigmoid sinus pressure. Bilateral internal jugular vein valve incompetence (IJVVI) was also diagnosed by Doppler ultrasonography during a VM. Indomethacin was administered for over four months, and the headache had completely disappeared at the four-month follow-up. Conclusions Cough headache might be associated with a transient increase of ICP induced by IJVVI, which might partially explain the pathophysiology of VM-induced headache. Detecting the internal jugular vein during a VM might be used as diagnostic procedure for patients who have PCH during resting and VM. If it is necessary, monitoring the ICP could be considered.

Familial occurrence of headache disorders: A population-based study in mainland China.

BACKGROUND: Headache disorders are highly prevalent worldwide, and familial occurrence and heredity are contributory factors attracting the interest of epidemiological researchers. Our purpose, in a large sample drawn nationwide from the Chinese general population, was to evaluate the frequency of similar headache in first-degree relatives (FDRs) of those with different headache types. METHODS: This was a questionnaire-based nationwide cross-sectional door-to-door survey using cluster random-sampling, selecting one adult (18-65 years) per household. Headache was diagnosed by ICHD-II criteria. Participants with headache were asked whether or not any FDRs had similar headache to their own. Chi-squared test and multivariate logistic regression analysis were used to assess the strength and significance of associations. RESULTS: Of 5041 survey participants (participation rate 94.1%), 1060 (21.0%) were diagnosed with headache (migraine 469 [9.3%], tension-type headache [TTH] 543 [10.8%], headache on ≥15 days/month 48 [0.95%]). From these, 31 were excluded because of missing data about FDRs, leaving 1029 for analysis (male 350 [mean age: 46.7±11.4years]; female 679 [mean age 46.3±11.2years]). Similar headache in one or more FDRs was reported by 22.2% (95% CI: 19.6-24.7%) overall, by 25.1% (21.1-29.1%) of those with migraine, by 19.1% (15.7-22.4%) with TTH and by 29.2% (16.3-42.0%) with headache on ≥15 days/month. The differences was significant between migraine and TTH (OR=1.4, p=0.023), but were not significant between headache on ≥15 days/month and TTH (OR=1.7, p=0.093), migraine and headache on ≥15 days/month (OR=1.2,p=0.534). In multivariate analysis: for migraine versus TTH,AOR=1.2 (p=0.015); for headache on ≥15 days/month versus TTH, AOR 2.3 (p=0.018). CONCLUSION: Headache was highly prevalent in China and common among FDRs of those with any type of headache (headache on ≥15 days/month>migraine>TTH). Against the background of the general-population prevalence of each disorder, familial occurrence was a very highly influential factor in headache on ≥15 days/month. There are important implications in this for public health and education.

Elevated blood pressure and headache disorders in China--associations, under-treatment and implications for public health.

BACKGROUND: Both hypertension (HTN) and headache disorders are highly prevalent worldwide. Our purpose, in a nationwide study of the Chinese general population, was to evaluate any association between primary headache disorders and elevated blood pressure (eBP). We could not collect data on antihypertensive therapy, but took the view that, whatever such therapy might be taken, eBP was a sign that it was failing to meet treatment needs. Therefore, as a secondary purpose, important from the public-health perspective, we would present the prevalence of eBP (treated or not) as indicative of unmet health-care need in China. METHODS: This was a questionnaire-based nationwide cross-sectional door-to-door survey using cluster random-sampling, selecting one adult (18-65 years) per household. Headache was diagnosed by ICHD-II criteria and eBP as systolic blood pressure ≥140 mmHg and/or diastolic blood pressure ≥90 mmHg. Chi-squared test and multivariate logistic regression analysis were used to assess the strength and significance of associations. We set significance at P ≤ 0.05. RESULTS: Of 5,041 survey participants (participation rate 94.1 %), 154 were excluded because of missing BP data, leaving 4,987 for analysis [mean age: 43.6 ± 12.8 years; male 2,532 (mean age: 43.4 ± 12.9 years); female 2,455 (mean age 43.9 ± 12.8 years)]. There were 466 participants with migraine, 535 with tension type headache (TTH) and 48 with all causes of headache on ≥15 days/month. The prevalence of eBP was 22.1 % (males 22.9 %, females 21.3 %). No associations of eBP with any of the headache disorders survived multivariate adjusted analysis. The demographic and anthropometric variables most strongly associated with eBP were higher age (AOR 3.7) and being overweight (AOR 2.4), seen in both genders. Less strong were male gender, lower educational level and urban habitation. CONCLUSIONS: We found no clear-cut associations between eBP and any headache disorder. The associations with demographic and anthropometric variables may have acted as confounders in past reports to the contrary. We did find an alarmingly high prevalence of eBP, recognizing that this signals substantial under-treatment in China of a serious condition, and therefore a major public-health concern.