Multiple Subtypes of Alzheimer’s Disease Base on Brain Atrophy Pattern

Alzheimer’s disease (AD) is a disease of a heterogeneous nature, which can be disentangled by exploring the characteristics of each AD subtype in the brain structure, neuropathology, and cognition. In this study, a total of 192 AD and 228 cognitively normal (CN) subjects were obtained from the Alzheimer’s disease Neuroimaging Initiative database. Based on the cortical thickness patterns, the mixture of experts method (MOE) was applied to the implicit model spectrum of transforms lined with each AD subtype, then their neuropsychological and neuropathological characteristics were analyzed. Furthermore, the piecewise linear classifiers composed of each AD subtype and CN were resolved, and each subtype was comprehensively explained. The following four distinct AD subtypes were discovered: bilateral parietal, frontal, and temporal atrophy AD subtype (occipital sparing AD subtype (OSAD), 29.2%), left temporal dominant atrophy AD subtype (LTAD, 22.4%), minimal atrophy AD subtype (MAD, 16.1%), and diffuse atrophy AD subtype (DAD, 32.3%). These four subtypes display their own characteristics in atrophy pattern, cognition, and neuropathology. Compared with the previous studies, our study found that some AD subjects showed obvious asymmetrical atrophy in left lateral temporal-parietal cortex, OSAD presented the worst cerebrospinal fluid levels, and MAD had the highest proportions of APOE ε4 and APOE ε2. The subtype characteristics were further revealed from the aspect of the model, making it easier for clinicians to understand. The results offer an effective support for individual diagnosis and prognosis.

Сhronic gastritis: impaired motor-evacuation function of the stomach

The effect of morphological changes in the gastric mucosa on the motor-evacuation function of the stomach was evaluated in 90 patients with chronic atrophic gastritis and 93 patients with chronic non-atrophic gastritis aged 18 to 82 years. Motor function disturbances were discovered of 90% of patients with chronic atrophic gastritis and 80,6% with chronic non-atrophic gastritis. It was established that the pyloric insufficiency compared with its spasm was significantly more (p0,01) often in chronic atrophic gastritis. Insufficiency of the lower esophageal sphincter in patients with atrophic gastritis was significantly (p0,01). Insufficiency of the lower esophageal sphincter in combination with duodenogastric reflux in patients with chronic atrophic gastritis was significantly more (p0,01) often observed during diffuse atrophy, i. e. when mucous membrane of stomach corpus and antrum is involved in the process. With the localization of atrophy in the antrum alone, pyloric insufficiency was observed significantly more (p 0,01) often than spasm. Thus, an interrelation between the insufficiency of the lower esophageal and pyloric sphincters with the diffuse atrophic process has been established. There are no significant differences of disorders of gastric motor function in patients with different types of chronic gastritis. Accelerated evacuation from the stomach with localization of atrophy in the mucous membrane of the stomach corpus is more (p 0,01) often observed in patients with chronic atrophic gastritis.

Atypical neuroimaging characteristics of hemophagocytic lymphohistiocytosis in infants: a case series of hemorrhagic brain lesions in the deep grey matter

Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem condition associated with uncontrolled overproduction and infiltration of lymphocytes and histiocytes predominantly in liver, lymph nodes, spleen, and central nervous system. Neuroimaging findings on MRI are fairly nonspecific and classically include periventricular white matter signal abnormalities and diffuse atrophy. Focal parenchymal lesions may demonstrate post contrast ring or nodular enhancement and calcification. However, the MR imaging characteristics can be highly variable. Here, we present two cases of HLH in infants with multiple hemorrhagic lesions mostly depicted in both thalami and basal ganglia regions. Thalamic, basal ganglia, and brain stem involvement with hemorrhagic changes in HLH are rarely described in literature. Early diagnosis of HLH may be lifesaving. Awareness of the disease is necessary to investigate its characteristic findings and avoiding a delay in diagnosis.

A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

A-072 Neuropsychological Case Study of Behavioral Variant Frontotemporal Neurocognitive Disorder​ in a Vietnamese Woman in a Community Health Setting

Objective Behavioral variant frontal temporal dementia (bvFTD) is characterized by progressive changes in behavior, personality, and cognition. Little is published on the presentation in non-English-speaking populations. Here is the case of a neuropsychological evaluation in a community health setting where language and cultural considerations were salient. Method A 73-year-old, right-handed, monolingual Vietnamese widowed female homemaker with five years of education and low literacy, was referred after gradual personality changes over five years caused family tension and a need for increased monitoring. History includes cardiovascular disease, hypertension, hypercholesterolemia, cholestatic hepatitis, and depression with remitting psychotic features and suicidal ideation. Neuroimaging shows right temporal encephalomalacia and mild diffuse atrophy commensurate with age. Results A bilingual phone interpreter was used. Test findings revealed low scores across all but two tasks (visuospatial processing speed, recognition memory). Several confrontation naming items were unknown to the patient or culturally irrelevant, per interpreter. Interview with an English-speaking daughter revealed declines in behavior and social comportment (e.g., unsympathetic, demanding, rigid, repetitive, disorganized, compulsive shopping and gaming, confabulatory) and modest declines in activities of daily living. Presentation was notably childlike, overly affectionate, “grabby”, insistent, restless, with poor conversational turn-taking (with interpreter), but generally intact expressive and receptive language. BvFTD was diagnosed. Conclusions Addressing needs of a diverse, multi-cultural population in a community health setting can present significant challenges. This case study highlights the importance of non-psychometric sources of data, including history, observation, and collateral interviews, along with consideration of education, language, and culture on the evaluation process and case conceptualization.

Prevalence of myopic maculopathy in the German population: results from the Gutenberg health study

AimsTo determine the prevalence of myopic maculopathy in the general population in Germany and to analyse potential associations with ocular and systemic factors.DesignThe Gutenberg Health Study is a population-based study, including 15 010 participants aged 35–74 years.MethodsMyopic maculopathy was graded in phakic eyes with spherical equivalent ≤−6 D by assessing fundus photographs according to a recent international photographic classification system (META-PM). 801 eyes of 519 participants (mean age 51.0±0.77 years) met the conditions and had gradable fundus photographs. Age-specific prevalence estimates were computed. Multivariable logistic regression analysis was used to assess associated factors with myopic maculopathy.ResultsMyopic maculopathy was present in 10.3% (95% CI 7.9 to 13.3) study participants. The prevalence was 8.6% (95% CI 6.1% to 11.9%) in the 397 right eyes and 8.7% (95% CI 6.2% to 12.0%) in the 404 left eyes. The most common type of pathology was diffuse atrophy (8.1%), followed by patchy atrophy (1.3%) and macular atrophy (0.5%); plus lesions were present in 3% (right eyes). Age (OR 1.07 per year, 95% CI 1.03 to 1.11, p<0.001), higher myopic refractive error (p<0.001), and male gender (p=0.02) were associated with myopic maculopathy, while cardiovascular risk factors and socioeconomic factors were not.ConclusionsThe prevalence of myopic maculopathy in the German population was 0.5%, and 10% in high myopic participants, aged 35–74 years. These population-based data are the first in Europe. Myopic maculopathy was related to severity of myopic refractive error and age.

Patients with gastric MALT lymphoma revealing persisting endoscopic abnormalities after successful eradication of Helicobacter pylori can be safely managed by a watch-and-wait strategy

Background In current guidelines, Helicobacter pylori eradication is recommended as first-line therapy in patients with gastric MALT lymphoma. This leads to complete lymphoma regression in the majority of patients. Those who show persisting histological residuals of lymphoma after eradication of the bacterium and normalization of endoscopic findings are managed by a watch-and-wait strategy. We aim to show that such an approach can be extended to patients with persisting endoscopic abnormalities. Methods Thirteen patients (7 female and 6 male; 62 years, range: 43 – 80) with gastric MALT lymphoma of stages I and II1 had received exclusive H. pylori eradication. Control endoscopies performed every 3 – 4 months during the first 2 years and 6 and 12 times monthly 2 – 5 and > 5 years after diagnosis, respectively, revealed successful eradication of H. pylori but persisting endoscopic abnormalities. Histologically, complete regression of the lymphoma or minor residuals were observed. Results Persisting endoscopic changes included thickened folds with or without superficial erosions, nodular mucosal surface with or without angiectasia, focal or diffuse atrophy, focal erythema, or a mixture of these findings. During a follow-up of 89.9 (12 – 329) months, the outcome of these patients was excellent with no single case of lymphoma progression. Conclusion A watch-and-wait strategy can be recommended for patients with gastric MALT lymphoma showing persisting endoscopic abnormalities after eradication of H. pylori. There is no need for any oncological treatment provided that regular endoscopic-bioptic controls do not reveal any progressive changes. A standardized description of the endoscopic changes as well as a thorough bioptic technique should be included.

Polyphasic Rhabdomyositis in California Sea Lions (Zalophus Californianus): Pathology and Potential Causes

A myositis syndrome has been recognized for more than a decade in California sea lions (CSLs; Zalophus californianus) but a detailed description of the lesions and potential causes of this condition is lacking. The tissues of 136 stranded CSLs with rhabdomyositis were examined. Rhabdomyositis was considered incidental in 67% (91/136) of the CSLs, and a factor contributing to the animal stranding (significant rhabdomyositis) in 33% (45/136). Of the 91 cases with incidental rhabdomyositis, lesions consisted of a few small foci of lymphohistiocytic inflammation. Of the 45 cases with significant rhabdomyositis, 28 (62%) also presented with major comorbidities such as leptospirosis (2 animals) and domoic acid toxicosis (6 animals), whereas 17 (38%) had severe polyphasic rhabdomyositis as the only major disease process associated with mortality. In these animals, most striated muscles had multiple white streaks and diffuse atrophy. Microscopically, there was myofiber necrosis surrounded by lymphocytes and histiocytes admixed with areas of myofiber regeneration, and/or moderate to severe rhabdomyocyte atrophy usually adjacent to intact Sarcocystis neurona cysts. At the interface of affected and normal muscle, occasional T lymphocytes infiltrated the sarcoplasm of intact myocytes, and occasional myofibers expressed MHCII proteins in the sarcoplasm. S. neurona antibody titers and cyst burden were higher in animals with significant polymyositis antibody titers of (26125 ± 2164, 4.5 ± 1.2 cysts per section) and active myonecrosis than animals with incidental rhabdomyositis antibody titers of (7612 ± 1042, 1.7 ± 0.82 cysts per section). The presented findings suggest that S. neurona infection and immune-mediated mechanisms could be associated with significant polyphasic rhabdomyositis in CSLs.

Interesting MRI finding in SSPE – a case report

Introduction: 10% of the subacute sclerosing panencephalitis (SSPE) presents with atypical features. Aim: SSPE is rare chronic encephalitis caused by persistent infection with defective measles virus. Characteristic MRI findings include signal changes (T2W and FLAIR hyperintensities) in bilateral occipital and parietal regions involving both gray and white matter. Early involvement of cerebellum and brainstem is not common. Case study: A 17-year-old male presented with complaints of recurrent seizures, slow walking, and behavioral abnormality. Neurological examination revealed cogwheel rigidity in all four limbs. MRI of the brain revealed asymmetrical cortical and subcortical altered signal intensities (T2W and FLAIR hyperintensity and T1W hypointensity) involving temporal and occipital lobes bilaterally (left more than right) with diffuse atrophy of cerebrum and cerebellum. Results and discussion: Early onset extrapyramidal features, seizures without myoclonus with MRI finding of posterior predominant asymmetrical cortical and subcortical signal abnormality is uncommon in SSPE. Conclusions: A high index of clinical suspicion for SSPE has to be maintained in patients haling from endemic areas, unvaccinated individuals presenting with seizures, behavioral abnormality, and extrapyramidal features.