Developmental deficits and staging of dynamics of age associated Alzheimer’s disease neurodegeneration and neuronal loss in subjects with Down syndrome

The increased life expectancy of individuals with Down syndrome (DS) is associated with increased prevalence of trisomy 21–linked early-onset Alzheimer’s disease (EOAD) and dementia. The aims of this study of 14 brain regions including the entorhinal cortex, hippocampus, basal ganglia, and cerebellum in 33 adults with DS 26–72 years of age were to identify the magnitude of brain region–specific developmental neuronal deficits contributing to intellectual deficits, to apply this baseline to identification of the topography and magnitude of neurodegeneration and neuronal and volume losses caused by EOAD, and to establish age-based staging of the pattern of genetically driven neuropathology in DS. Both DS subject age and stage of dementia, themselves very strongly correlated, were strong predictors of an AD-associated decrease of the number of neurons, considered a major contributor to dementia. The DS cohort was subclassified by age as pre-AD stage, with 26–41-year-old subjects with a full spectrum of developmental deficit but with very limited incipient AD pathology, and 43–49, 51–59, and 61–72-year-old groups with predominant prevalence of mild, moderately severe, and severe dementia respectively. This multiregional study revealed a 28.1% developmental neuronal deficit in DS subjects 26–41 years of age and 11.9% AD-associated neuronal loss in DS subjects 43–49 years of age; a 28.0% maximum neuronal loss at 51–59 years of age; and a 11.0% minimum neuronal loss at 61–72 years of age. A total developmental neuronal deficit of 40.8 million neurons and AD-associated neuronal loss of 41.6 million neurons reflect a comparable magnitude of developmental neuronal deficit contributing to intellectual deficits, and AD-associated neuronal loss contributing to dementia. This highly predictable pattern of pathology indicates that successful treatment of DS subjects in the fourth decade of life may prevent AD pathology and functional decline.

Pyogenic Granuloma of Lower Lip: An Unusual Presentation

Pyogenic granuloma is a benign inflammatory hyperplasia of connective tissue. It depicts an overzealous tissue response to a known stimulus or injury and is commonly found in the gingiva, especially in the anterior maxilla, and rarely on lips, oral mucosa, and tongue. It is commonly seen during the second, third, and fourth decade in females, with predilection in the third decade. This case report depicts the unusual presentation of pyogenic granuloma of the lower lip in an 11-year-old male child following a positive history of trauma and lip biting, which was successfully managed by excision under local anesthesia.

Zapach wojny i gór. Huculi i Huculszczyzna w międzywojennej literaturze polskiej o tematyce współczesnej (część II)

The article is the second part of a comprehensive study on representations of Hutsuls and the Hutsul region in the interwar Polish literature, which showed them during the First World War and the wars for the borders of the Second Polish Republic, as well as in the 1920s and 1930s. The article discuses, first and foremost, literary visions of Hutsuls and their native land in the third and fourth decade of the 20th century. The interwar Polish literature, which showed the Hutsul region “of today”, paid special attention to peacetime partnership of Poles and Hutsuls, which was to follow their wartime joint actions against Russians in the Eastern Carpathians in 1914–1915. It implied that this partnership was a result of a perfect match between the Polish national component and the Hutsul ethnic element. The article argues that Polish literature showed the compatibility of Poles and Hutsuls in the macro and micro dimensions. On the macro level, it was to be manifested, on the one hand, in the effective help of the Polish state institutions for Hutsuls, on the other hand, in the gratitude of Hutsuls for Poles. On the micro level, the Polish-Hutsul compatibility was to be manifested in friendly or intimate relations of representatives of both groups; relations which were invariably successful in spite of the fact that the Polish side dominated them and felt entitled to lead a civilization mission among Hutsuls. Such literary visions presented the Hutsul region as an integral part of the Second Polish Republic and its indigenous inhabitants as loyal citizens of the entire country. They also made it clear that Hutsuls affirmed Polishness and that Poles were welcomed and needed in the Hutsuls’s land.

Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.

Document of October 10th, 1365 on the Cession of the Benedictine Monastery to the Nuns of St. Clare in Kotor

The first mentions of the nuns of St. Clare in Kotor date from the fourth decade of the 14th century. Their position in that commune improved in the second half of that century. In December 1364, at the request of the Kotor authorities, Pope Urban V asked the Bishop of Kotor, Dujmo II, to restore the former Benedictine monastery due to the needs of the nuns St. Clare. In the presence of the highest authorities of Kotor, on October 10th, 1365, a document on this legal action was issued. It is preserved in a transcript in the manuscript collection II b 21, held in the manuscript department of the Archives of the Croatian Academy of Sciences and Arts in Zagreb. The document contained the act of assigning the monastery to the Clarisses, prescribing the income which was given on that occasion to the monastery of St. Clare, as well as the appointment of Clare of Foro Julius as its first nun. Part of the transferred revenues consisted of communal revenues from fish market customs duties. The second part of the donation consisted of revenues in the amount of two hundred perpers, half of which came from the butcher's slaughterhouse, and the other half from customs revenue on wine. Customs officers or gabellers, ie persons who leased the mentioned revenues, were obliged to take care of the collection of those revenues. Revenues that the monastery of St. Clare received in October 1365 and are mentioned during the 15th century. Dukal of October 15th, 1447, says that the Venetian authorities after Kotor accepted their rule, recognized the right of the nuns of St. Clare on the said revenues. However, Kotor municipal authorities have occasionally challenged the right to collect assigned revenues, as well as the right to elect procurators themselves. That is why the nuns complained to the Venetian authorities, who ordered the Kotor authorities to allow them to enjoy the allocated income and the right to elect procurators themselves. The problem of paying the income from the fish market to the Clarisses was also present at the end of the 15th century, and Venetian authorities had to intervene.

Sphenoid sinus mucocele with unilateral blindness – a case report

Mucocele of the paranasal sinuses are benign cystic lesions filled with mucus. They occur in the sphenoid sinus in 1–2% of all paranasal sinuses, most often in the fourth decade of life. Clinical manifestations are non-specific, caused by pressure expansion into anatomical structures immediately adjacent to the sphenoid sinus. They are manifested by headaches, dropped eyelids, impaired movement of the globe, and impaired vision. In the differential dia­gnosis, it is necessary to distinguish them from tumour processes and processes propagating from the intracranium. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) play an important role in the dia­gnosis, the definitive dia­gnosis is determined by perioperative findings and histological examination. Curative surgical options include endoscopic transnasal sphenoidotomy with marsupialization. In this article, we present a case of a patient with a mucocele of the sphenoid sinus, which was the cause of unilateral blindness. Keywords: marsupialization – mucocele – sphenoid sinus – endoscopic transnasal sphenoidotomy

Mortality of covid19 in sickle cell disease systematic review

The covid19 infection is pandemic disease are more commonly in chronic diseases. As covid19 case pulmonary infection, the current study focuses on sickle cell disease patients are suitable to acute chest syndrome. It will clarify the risk factors for covid19 infection and its clinical features in sickle cell disease. It also reviews the radiological findings to gain more data on this pandemic disease. The current study includes 44 cases of sickle cell disease having covid19 infection. The entire cases include sickle cell disease only in 89% whereas the other sickle cell disease cases are coexisted with beta- thalassemia in 9.1%. The fourth decade is the highest peak incidence. There are several complications found to be in sickle cell disease are acute chest syndrome, chronic leg ulcer, renal failure exceeding 10%. The bronchial asthma found to be in 6.9% and avascular necrosis found to be 11.4% whereas the cerebrovascular accident found to be in 13.8%. The radiological changes include lung tissues, alveoli, pleural cavities and pulmonary arteries in different rate. The incidence of recovery found to be in 93% whereas the death found to be in 7%. It found to be involving in respiratory and gastrointestinal systems result in different clinical features in different rate. This study compares the clinical features, findings investigation and complications between sex and decades. Further, this study clarifies recovery and mortality rate between sex and decades. Knowing and understanding covid19 infection in sickle cell disease, physicians will be able to provide high quality of medical services.

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.

Histopathologic pattern of ovarian masses in Usmanu Danfodiyo university teaching hospital, Sokoto, Nigeria

Diseases of the ovary are diversely arising from the different parenchymal tissue components. This span between reactive functional cysts to more debilitating ovarian carcinoma. Ovarian carcinoma is the sixth most common cancer and one of the leading cause of cancer death among female. This study aims to determine the epidemiological and histopathological patterns of ovarian masses in our setting.The study material was all the ovarian tissues biopsy specimen submitted to the Department of Histopathology, Usmanu Danfodiyo University Teaching Hospital, Sokoto over five years. These were fixed in 10% formal saline embedded in paraffin wax, tissue blocks formed and were sections and stained with hematoxylin and eosin on the glass slides. Request cards and case folders were used to extract clinical information. These were reviewed, analysed and presented as frequency distribution figures.There were 112 ovarian biopsies during the study period. Their ages ranged between 13 and 67 years and peaked in the fourth decade of life. Fifty per cent of all the cases were seen between the ages of 21 and 40 years. Benign neoplastic diseases formed 50% of the ovarian masses and matured cystic teratoma was the most common. Others were reactive and functional ovarian cysts (24.1%), malignant neoplastic conditions (14.3%) and inflammatory / infectious diseases (11.6%). Overall mature cystic teratoma constitutes 27% of the entire ovarian masses. Matured cystic teratoma was the most common disease of the ovary in our setting, afflicting young female, while malignant tumours dominated by serous cystadenocarcinoma affect the older age group. The fourth decade of life was the most common age of affectation. We advocate for proper histopathologic evaluation of all ovarian masses to arrive at a definitive diagnosis to offer an appropriate treatment modality.

UKRAINE, QUO VADIS? AFTERTASTE HOLIDAY

The fourth and final article prepared in the Centre for Ukrainian Studies of the Institute of Europe of the RAS for the 30th anniversary of Ukraine’s independence cycle, devoted to the way in which the features of transformation of Ukrainian society and the State addressed in previous articles were reflected in the celebrations, discourses and narratives. The opportunity to analyse the country’s path has not been fully exploited. The anniversary events were held, leaving a sense of understatement. This to a certain extent characterizes the situation – internal and external – in which the Ukrainian Republic found itself at the beginning of the fourth decade of its sovereign independent existence. His romantic period is over, and the realistic one has not been started yet. A sense of general uncertainty and political indecision has been left from the events and judgments of the anniversary year. The conclusion proposed by the author of the article is that the time for waiting, declarations and palliatives for Ukraine has passed. It is time for sober judgment and decisive action. Countries face a decisive reboot of the political system and a critical review of the goals, means and pace of modernization and development.