Clinical Features and Prognosis in Chinese Patients With Dipeptidyl–Peptidase–Like Protein 6 Antibody–Associated Encephalitis

Objectives:Anti-dipeptidyl–peptidase–like protein 6 (anti-DPPX) encephalitis an extremely rare type of immune-mediated encephalitis. This study aimed to analyze the electroclinical characteristics and prognosis of anti-DPPX encephalitis.Methods:Five patients (all male) with anti-DPPX encephalitis in East China from January 2016 to October 2021 was retrospective analyzed. Electroclinical features and outcomes were reviewed.Results:All five patients were male. The media age at disease onset was 32 years old with a range of 14–56 years. The main symptoms included psychiatric disturbances (2/5), amnesia (4/5), confusion (3/5), and seizures (3/5). Migrating myoclonus were identified in patient 4 with positive DPPX and contactin-associated protein-like 2 antibodies in blood. All of the patients had positive DPPX antibodies in serum. Only one of them had positive antibody in the cerebrospinal fluid. EEG showed diffuse slowing in two patients, but no epileptiform discharges were observed. Eighty percent (4/5) of the patients showed normal brain magnetic resonance imaging. After immunotherapy, improvement of neuropsychiatric symptoms from all of the patients was observed. Over a mean follow-up of 30.8 weeks, all of the patients had marked improvement in the modified Rankin Scale. To date, no tumors were not observed in any patients.Conclusions:Anti-DPPX encephalitis mainly presents as neuropsychiatric symptoms. Cooperation of DPPX antibodies and CASPR2 antibodies might have contributed to the migration of myoclonus in the patient 4. Prompt immunotherapy often results in improvement.

Segmental neurofibromatosis with compression of the spinal cord at the cervical level. Literature review and case report

Background. Neurofibromatosis is a fairly rare disease (1/3000). In 1992, V. Riccardi described seven types of neurofibromatosis. Segmental neurofibromatosis (sh), also known as type V neurofibromatosis, is an extremely rare variant characterized by the development of typical cutaneous manifestations or one body segment neurofibromas. Clinical case. Currently, the literature describes about 100 cases of sh and only one of them with compression of the spinal cord. We present our first case of this nosological form with spinal cord compression in a Russian patient. A 70-year-old patient, due to an increasing paresis in the left extremities, underwent mri of the cervical spine, which revealed solid tumors located extramedullary intra-extradurally at the level of c2-c3 vertebrae with pronounced compression of the spinal cord. At the time of hospitalization, clinical presentation was characterized by deep spastic tetraparesis (1–2 points), impairment of all types of sensitivity from the c4 level by the conductive type, and dysfunction of the pelvic organs by the type of delay. Karnofsky index was 50 %, 2 points on the Fim scale. Standard c2-c3 vertebrae laminectomy was performed. Spinal cord compression was eliminated due to the removal of intradural tumors. Subsequently, extradural tumors were removed step by step. On histological examination, tumors were represented by intertwining bundles of elongated schwann cells with wavy nuclei with pointed ends and ileogenic fibers. Mucin present in the stroma separated cells and fibers. Conclusion. Sn is a rare type of neurofibromatosis. However, from the point of view of genetics, it is most likely incorrect to attribute it to a separate type of neurofibromatosis, since the cause of its development is mosaicism of somatic cells due to mutation of the NF 1 gene. Sn is rarely manifested by the development of spinal nerves multiple neurofibromas, however, it can be accompanied by a gross neurological deficit caused by compression of the spinal cord such neurofibromas. Surgical treatment is based on basic and special surgical principles that determine the anatomical and morphological characteristics of the area of intervention, the compliance of which allows for good treatment results.

Primary Adrenal Lymphoma: When B Symptoms Appear Hand in Hand with Adrenal Masses

Primary adrenal lymphoma (PAL) is a very rare type of non-Hodgkin’s lymphoma (NHL). Herein, we report a case of NHL of both adrenal glands in a 69-year-old man. The patient was admitted because of a 1-month history of B symptoms and symptomatic hypotension. Biochemical analysis showed normocytic normochromic anaemia, hyponatraemia, hyperkalaemia, and elevated lactate dehydrogenase, C-reactive protein and D-dimers. A computed tomography scan revealed bilateral enlargement of the adrenal glands. There was no evidence of endocrine adrenal dysfunction. The mass in the right adrenal gland was biopsied and histopathology identified a diffuse large B-cell lymphoma of the activated B-cell subtype. A positron emission tomography 18F-fluorodeoxyglucose scan showed intensive hypermetabolic lesions involving both adrenal glands, as well as other locations, with higher uptake in the adrenal glands. Taken together, these findings suggested the diagnosis of PAL. The patient responded favourably to debulking therapy and is currently undergoing chemotherapy.

The Value of Perioperative Chemotherapy for Patients With Hepatoid Adenocarcinoma of the Stomach Undergoing Radical Gastrectomy

BackgroundHepatoid adenocarcinoma of the stomach (HAS) is a rare type of gastric cancer, but the role of perioperative chemotherapy is still poorly understood. The aim of this retrospective study was to investigate the associations between perioperative chemotherapy and prognosis of HAS.MethodWe retrospectively analyzed patients with locally advanced HAS who received radical surgery in Peking University Cancer Hospital between November 2009 and October 2020. Patients were divided into neoadjuvant chemotherapy-first (NAC-first) group and surgery-first group. The relationships between perioperative chemotherapy and prognosis of HAS were analyzed using univariate, multivariate survival analyses and propensity score matching analysis (PSM).ResultsA total of 100 patients were included for analysis, including 29 in the NAC-first group and 71 in the surgery-first group. The Her-2 amplification in HAS patients was 22.89% (19/83). For NAC-first group, 4 patients were diagnosed as tumor recession grade 1 (TRG1), 4 patients as TRG 2, and 19 patients as TRG 3. No significant difference in prognosis between the surgery-first group and the NAC-first group (P=0.108) was found using PSM analysis. In the surgery-first group, we found that the survival rate was better in group of ≥6 cycles of adjuvant chemotherapy than that of <6 cycles (P=0.013).ConclusionNAC based on platinum and fluorouracil may not improve the Overall survival (OS) and Disease-free survival time (DFS) of patients with locally advanced HAS. Patients who received ≥6 cycles of adjuvant chemotherapy had better survival. Therefore, the combination treatment of radical gastrectomy and sufficient adjuvant chemotherapy is recommended for patients with locally advanced HAS.

Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report

BackgroundPrimary hepatoid adenocarcinoma of the gallbladder is a relatively rare type of extrahepatic adenocarcinoma. The genetic changes involved in this type of adenocarcinoma were unexplained so far. We reported a rare case of primary hepatoid adenocarcinoma of gallbladder with Mab-21 domain containing 2 (MB21D2), polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12), and AT-rich interaction domain 2 (ARID2) mutations, which was confirmed after surgical resection pathologically.Case SummaryA 69-year-old female with distention of hypogastrium and constipation received enema treatment, but ineffectively. No abnormalities were found on relevant physical examination. Then, the CT and MRI demonstrated a 3.3–4-cm soft tissue mass shadow in the neck of the gallbladder. The primary lesions consisted of two components: high-grade intraepithelial neoplasia of glands and hepatoid glands microscopically after laparoscope cholecystectomy. Immunohistochemical staining showed the sameness and difference of the two areas. Furthermore, tumor mutational burden (TMB) shows that the MB21D2, GALNT12, and ARID2 genes were mutated.ConclusionThis is the first report of primary hepatoid adenocarcinoma of the gallbladder with MB21D2, GALNT12, and ARID2 mutations. This will provide a theoretical basis for genetic changes in rare tumors.

Unusual neurological manifestations of bilateral medial medullary infarction: A case report

Bilateral medial medullary infarction (BMMI) is an extremely rare type of cerebrovascular accident often resulting in poor functional consequences. “Heart appearance” on diffusion-weighted imaging (DWI) of magnetic resonance imaging (MRI) is the unique presentation of BMMI. In this article, we present an acute ischemic stroke patient whose brain MRI showed the atypical “heart appearance” sign, manifested unusual bilateral central facial paralysis concurrently. For an early diagnosis of BMMI, it is essential to recognize the characteristic clinical and MRI findings of this rare type of stroke. Abnormal small dot or linear DWI signal at the midline of the brainstem should not be ignored at the early stage of stroke.

Influence of meromixia on the distribution of zoobenthos and zooplankton in the salt soda lake Doroninskoe

Meromictic soda lakes are considered models of reservoirs of the Early Proterozoic. Lake Doroninskoe belongs to a rare type of moderately salty alkaline soda lake with a carbonate type of salinity and pronounced meromixia. Studies and publications on the zoobenthos of the lake are rare. In 2005–2007, studies of zoobenthos and zooplankton of the lake were carried out. Meromixia of the water column caused the stable presence of zooplankton only in a layer up to 4 m. The distribution of the taxonomic abundance, quantitative development and structure of zoobenthos in the lake corresponds to the stratification of the water column into mixolimnion, chemocline and monimolimnion. Bottom biotopes and water column layers deeper than 4 m were uninhabited, which is probably due to the lack of oxygen and high hydrogen sulphide content in the bottom water layers due to meromixia. A similar distribution of zooplankton in Lake Doroninskoe and its mesocosm model was revealed.

Giant malignant Chondroid Syringoma: Case Report and Literature Review

Chondroitin syringoma, also known as cutaneous mixed tumor, is a rare type of sweat gland tumor, accounting for 0.01% to 0.1% of all primary tumors of the skin. The malignant form is extremely rare, with 41 cases described so far. It predominates in the trunk and distal extremities and affects women more frequently, with a 3: 2 rate 6,7. Patients may reach the health service with large lesions due to the fact of being slow-growing lesions and have a high rate of recurrence, requiring surgical treatment that may lead to extensive defects making complex reconstructions necessary. We present a case of malignant chondroid syringoma in an 80 years old male patient, with 29 years of evolution and unusual size. A reconstruction was performed with a muscular dorsal flap of the latissimus dorsi with good aesthetic and functional results, with no signs of recurrence after 8 months of follow-up. It is concluded that because it is a late diagnosis neoplasia, the surgical treatment ends up generating expressive defects. There for musculocutaneous should be considered as an option for reconstruction, aiming optimal functional and aesthetic restoration.

A Rare Case of Myoid Hamartoma Masquerading As Invasive Breast Carcinoma

Breast Myoid Hamartoma (MH) is a rare type of neoplasm with a poorly understood pathogenesis. Very few literatures have reported such disease with an unclear prognosis and malignant potentiality. Some isolated studies have shown that breast Myoid Hamartoma (MH) may be genetically related to other types of tumours with the involvement of HMGA2 gene. We reported a case of a 64-year-old post-menopausal lady with an underlying chronic idiopathic axonal polyneuropathy (CIAP) that was referred to our centre for a suspected right breast tumour. Clinical and imaging proved the disease to be malignant, however, core biopsy results showed otherwise. Ultrasound of the right breast showed a solid mass with a hypoechoic heterogeneous echotexture and posterior shadowing. A Mammogram highlighted a dense lesion in the right breast with radiolucent halo and macrocalcification. It was reported as BIRADS 4 category. Managing breast Myoid Hamartoma (MH) is proved to be of great challenge to clinicians as meticulous clinical acumen is needed to strategize a proper plan and management, most importantly, not to overlook the disease as the malignant transformation has been reported before.

Female everyday life in letters by a Karelian peasant woman of the early XX century

Introduction. The article reports the results of an analysis of the letters written by a peasant early in the XX century, found in the National Archives of Finland, which are a rare-type of historical source. Their author is a twenty-year-old peasant Anna Eremeeva-Räikha, who wrote them to her husband exiled to North Kazakhstan. The relevance of the study is defined by high interest to epistolary cultural heritage, where a special place is given to the letters of Russian’s different ethnic groups, and also by attention paid to the history of everyday life. Materials and Methods. The principal method was analysis of the structure of the letters, including identification of thematic block sequences and their subsequent clustering for the analysis of specific issues. Results and Discussion. The article explicates the substantive dimension of the letters, which reflects the sphere of interests of their author, and looks into the descriptions of women’s daily routines and the life of the Karelian family. It highlights the range of covered subjects and outlines the topics showing the routines and the behavioral practices of a peasant woman, her ways of adapting to the new circumstances after the husband’s arrest. The specific jobs and occupations are aligned with the farming calendar of northern Karelia. Features of the author’s self-presentation, ways of structuring and drawing up the texts are demonstrated. The study illustrates the range of topics and emotions rooted in the gender factor, and the diversity of their expression. Conclusion. The letters disclose the system of moral values of a Karelian woman, the Christian ideal of family relationships, special features of professional motivations. The “voice” of a Karelian peasant woman retained in these letters is a relevant source for studying the alteration of women’s everyday life early in the XX century and it allows talking about the maturing demand for emancipation in everyday life and gradual loosening of the traditional gender order in the Karelian village.