scholarly journals Klinefelter syndrome in children and adolescents

2018 ◽  
Vol 64 (5) ◽  
pp. 321-328
Author(s):  
Darya A. Bespalyuk ◽  
Igor S. Chugunov

Klinefelter syndrome is a chromosomal pathology, which is the most common anomaly of sex chromosomes and the most common form of primary male hypogonadism. The presence of an extra X-chromosome in the karyotype causes infertility, azoospermia, small size of testicles, high level of gonadotropins and low level of testosterone, tallness and disproportionate physique, learning difficulties, and developmental speech disorders. Despite the high incidence of the syndrome in the population, only 25% of patients are aware of their disease during their lifetime. Late diagnosis and delayed treatment are often due to pronounced clinical polymorphism of the disease, different symptom onset time, as well as high incidence of associated conditions, so that these patients are followed by various specialists, but they are not aware of the main diagnosis. This review presents data on the history, etiology of the syndrome, clinical and laboratory features characteristic of children, adolescents, and adults. The most common associated diseases are listed and current data on their prevalence and the effect of testosterone replacement therapy on these conditions are provided.

2020 ◽  
pp. 3-4
Author(s):  
Oksana B. Badeeva ◽  

Statistical data of livestock for 30 years is reflected in the article. Author used the materials of the state veterinary reporting. A comparative analysis of the number, incidence and death rate of adult animals and young cattle for two five-year periods (2001-2005 and 2014-2018). the data of the analysis of veterinary statistical reports for 2018 on the specific weight of the large horned cattle and age dynamics of calves in farms of the Vologda region are shown. A significant decrease in livestock of the large horned cattle by 56.3% (from 1990 to 2018) is shown in the analysis of the data. Over the five years 2014-2018, there was a decrease in the number of the large horned cattle by 31.3%, the birth rate of calves - by 26.2%, and the incidence of calves - by 12.3% and the mortality rate decreased by 3.3%. Despite the decline in the number of livestock, in 2018 there is a high incidence of animal diseases (49.6%). The highest incidence rate was observed among calves under 10 days of age 43.3%, 31.7% - from 11 to 30 days, 15.8% - from one to three months, 6.5% - from three to six months and 2.7% - from 6 to 12 months. Of the total number of sick calves in 2018, 63.2% had gastrointestinal diseases, and death for this reason is 49.6% of the total number of victims. Respiratory diseases affect 21.8% of young animals, and death due to respiratory diseases is 18.2%. Analysis of statistical data showed that, despite the complex of veterinary and sanitary measures, the incidence and death of calves remain at a high level. This can be explained by delayed diagnosis and low therapeutic effectiveness in gastrointestinal and respiratory diseases of cattle.


2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Alastair M. Sammon ◽  
Eugene J. Ndebia ◽  
Ekambaram Umapathy ◽  
Jehu E. Iputo

Background. Previous studies have established norms of 24-hour gastric pH profiles for western countries. This study was designed to establish the pattern for a rural African population with a high incidence of oesophageal cancer.Methods. After lower oesophageal manometry a probe was placed 10 cm distal to the lower oesophageal sphincter. We carried out 24-hour ambulatory monitoring of gastric pH on 59 healthy subjects. This was satisfactorily completed on 26 female and 18 male (age 21–64, median 35) subjects in the Transkei region of South Africa.Results. The mean 24 hour gastric pH was 2.84 and the mean night-time pH was 3.7. 40 volunteers recorded a night-time pH reaching over 4. 33 volunteers recorded a night-time pH over 7. Night-time alkalinisation was present for 136.4 minutes (25th centile 22.8, 75th centile 208.1) at pH4 or over, and 79.3 (2.5, 122.7) minutes at pH7 or over. Episodes of rapid alkaline rise were 17 (10, 47). 21.1% of these occurred while supine. 35 of 36 tested subjects were positive forH. pyloriIgG.Conclusion. Gastric alkalinisation is common in Transkei, at a higher pH than that reported in other studies, and is sustained longer. Nighttime alkalinisation is frequent. This suggests a high level of duodenogastric reflux.


1983 ◽  
Vol 91 (1) ◽  
pp. 139-146 ◽  
Author(s):  
A. M. Murphy ◽  
G. S. Grohmann ◽  
M. F. H. Sexton

SUMMARYA high incidence of gastroenteritis in both islanders and tourists has been recorded in recent years on Norfolk Island – a popular tourist resort for Australians and New Zealanders. No bacterial cause has been found. However, electron microscopic examination of 28 faecal specimens revealed viruses associated with gastroenteritis in 21 (75%). No viruses were isolated in cell cultures. Bore water is used for drinking purposes on the island and 32 samples from 15 bores were examined for viruses by electron microscopy and culture as well as for bacterial contamination. Seven polioviruses (all type 1 vaccine strain) and adenoviruses 1 and 5 were isolated in cell cultures. In addition one rotavirus, one adenovirus and two small round viruses were detected by electron microscopy. Six of 21 samples tested showed unacceptably high levels of bacteria for drinking water. The deep ground water has apparently become contaminated with sewage effluent and is almost certainly the main cause of the high level of gastroenteritis on the island.


2021 ◽  
Vol 49 (3) ◽  
pp. 653-701
Author(s):  
Heiko Hausendorf ◽  
Kenan Hochuli ◽  
Johanna Jud ◽  
Alexandra Zoller

Abstract The present paper is concerned with the lecture hall as the natural home of lecturing. We will focus on constructed, designed and equipped space as a material and communicative manifestation of science which fundamentally contributes to the multimodal practice of lecturing. Taking an interactionist point of view, we start off with introducing our concept of architecture-for-interaction which aims at spatial built-in features as a resource for social interaction, namely for situational anchoring among those present. In a second step, we identify key architectural elements of the lecture hall as material sediments of communicative problems connected with the social practice of lecturing. In doing so, we will also give a high-level overview of the historical development of the lecture hall (and its precursors) since the Middle Ages and the Early Modern Age. Turning to current data from lecturing in times of the pandemic, we will then deal with so called „ghost lectures“ behind closed doors. This current development brings out a refiguration process due to which the lecture hall undergoes a change from the classical auditorium with copresent participants to a multi-media hub allowing for tele-present participants.


2002 ◽  
Vol 65 (6) ◽  
pp. 963-969 ◽  
Author(s):  
P. M. MURIANA ◽  
W. QUIMBY ◽  
C. A. DAVIDSON ◽  
J. GROOMS

A mixed cocktail of four strains of Listeria monocytogenes was resuspended in product purge and added to a variety of ready-to-eat (RTE) meat products, including turkey, ham, and roast beef. All products were vacuum sealed in shrink-wrap packaging bags, massaged to ensure inoculum distribution, and processed by submersion heating in a precision-controlled steam-injected water bath. Products were run in pairs at various time-temperature combinations in either duplicate or triplicate replications. On various L. monocytogenes–inoculated RTE deli meats, we were able to achieve 2- to 4-log cycle reductions when processed at 195°F (90.6°C), 200°F (93.3°C), or 205°F (96.1°C) when heated from 2 to 10 min. High-level inoculation with L. monocytogenes (~107 CFU/ml) ensured that cells infiltrated the least processed surface areas, such as surface cuts, folds, grooves, and skin. D- and z-value determinations were made for the Listeria cocktail resuspended in product purge of each of the three meat categories. However, reduction of L. monocytogenes in product challenge studies showed much less reduction than was observed during the decimal reduction assays and was attributed to a combination of surface phenomena, including surface imperfections, that may shield bacteria from the heat and the migration of chilled purge to the product surface. The current data indicate that minimal heating regimens of 2 min at 195 to 205°F can readily provide 2-log reductions in most RTE deli meats we processed and suggest that this process may be an effective microbial intervention against L. monocytogenes on RTE deli-style meats.


2019 ◽  
Author(s):  
Hadeel Gassim Hassan ◽  
Abeer Babiker Idris ◽  
Mohamed A. Hassan ◽  
Hisham N. Altayb ◽  
Kyakonye Yasin ◽  
...  

AbstractBackgroundThere is an increase in the prevalence of Helicobacter pylori infection in Sudan, accompanied by a high incidence of upper gastrointestinal malignancy. The cytotoxin-associated gene cagA gene is a marker of a pathogenicity island (PAI) in H. pylori and plays a crucial role in determining the clinical outcome of Helicobacter infections.ObjectiveThis study aimed to determine the frequency and heterogeneity of the cagA gene of H. pylori and correlate the presence of cagA gene with clinical outcomes.Materials and methodsFifty endoscopy biopsies were collected from Fedail and Soba hospitals in Khartoum state. DNA was extracted using the Guanidine chloride method followed by PCR to amplify 16S rRNA and cagA gene of H. pylori using specific primers. DNA amplicons of cagA gene were purified and sequenced. Bioinformatics and statistical analysis were done to characterize and to test the association between cagA gene and gastric complications.ResultsCagA gene was detected in 20/37(54%) of the samples that were found positive for H. pylori. There was no association between endoscopy finding and the presence of the cagA gene (p = 0.225). Specific amino acid variations were found at seven loci related to strains from a patient with duodenitis, gastric ulcer, and gastric atrophy (R448H, T457K, S460L, IT463-464VA, D470E, A482Q, KNV490-491-492TKT) while mutations in cancerous strain were A439P, T457P, and H500Y.ConclusionDisease-specific variations of cagA of H. pylori strains, in the region of amino acid residues 428-510, were evident among Sudanese patients with different gastroduodenal diseases. A novel mutation (K458N) was detected in a patient with duodenitis, which affects the positive electrostatic surface of cagA. Phylogenetic analysis showed a high level of diversity of cagA from Sudanese H. pylori strains.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fabiola romero ◽  
Sady Arzamendia ◽  
Dahiana Ferreira ◽  
Claudia Neves de Souza ◽  
Helen Lopez ◽  
...  

Abstract INTRODUCTION: Morsier Syndrome is a rare congenital malformation, characterized by hypoplasia / aplasia of the septum pellucidum and hypoplasia / aplasia of the optic nerves, in addition to pituitary and hypothalamic hormonal deficiencies. Klinefelter Syndrome is a sexual chromosomal genetic alteration, a frequent cause of male hypogonadism, The association of Morsier syndrome and Klinefelter is described below. CLINICAL CASE We report he case of a 12 year-old boy with psychomotor retardation and nystagumsho presented at 14 months of age with growth hormone deficiency (low weight and height,) and diabetes insipuidus with hypernatremia of of 159 mEq and low urinary density (less than 1,005). MRI showed an absence of septum pellucidum, thick right frontal cortical dysplasia with asymmetric appearance of the grooves, small optic chiasma, hypoplastic pitutary gland (3 mm height), compatible with Morsier syndrome. The physical examination draws attention to tall stature, and long lower limbs, facies with prominent forehead and hypertelorism, gynecomastia and small external genitalia for age. Hormonal evaluation revealed hypergonadotropic hypogonadism with a 47 XXY karyoteype suggeting Klinefelter syndrome. CONCLUSION: We report the first case of Morsier syndrome, associated to Klinefelter syndrome. Both syndromes may present with hypogonadism. However, the diagnosis of klinefelter syndrome was made based on the phenotypic characteristics of this patient including hyeprgonadotroic hypogonadism and abnormal karyotype analysis.


HIV ◽  
2020 ◽  
pp. 89-98
Author(s):  
Ronnie M. Gravett ◽  
Jeanne Marrazzo

Sexually transmitted infections (STIs) significantly impact persons living with HIV and occur at relatively high incidence among persons living with HIV. Bacterial STIs, namely, chlamydia, gonorrhea, and syphilis, have increased tremendously since the advent of safe and effective antiretroviral therapy. Thus, while persons living with HIV are living much longer and healthier lives, many are experiencing a higher burden of STIs. The majority of STIs are asymptomatic, which raises challenges in screening and diagnosis and consequently the potential for delayed treatment. Taking a sexual history including sexual practices, partners, and symptoms should be a part of routine care of persons living with HIV. Annual screening for STIs is essential and should be more frequent as determined by sexual history. Prompt treatment can prevent further morbidity and adverse outcomes.


Pathogens ◽  
2020 ◽  
Vol 9 (9) ◽  
pp. 775
Author(s):  
Emmanuel Kabwe ◽  
Yuriy Davidyuk ◽  
Anton Shamsutdinov ◽  
Ekaterina Garanina ◽  
Ekaterina Martynova ◽  
...  

Orthohantaviruses give rise to the emerging infections such as of hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome (HPS) in Eurasia and the Americas, respectively. In this review we will provide a comprehensive analysis of orthohantaviruses distribution and circulation in Eurasia and address the genetic diversity and evolution of Puumala orthohantavirus (PUUV), which causes HFRS in this region. Current data indicate that the geographical location and migration of the natural hosts can lead to the orthohantaviruses genetic diversity as the rodents adapt to the new environmental conditions. The data shows that a high level of diversity characterizes the genome of orthohantaviruses, and the PUUV genome is the most divergent. The reasons for the high genome diversity are mainly caused by point mutations and reassortment, which occur in the genome segments. However, it still remains unclear whether this diversity is linked to the disease’s severity. We anticipate that the information provided in this review will be useful for optimizing and developing preventive strategies of HFRS, an emerging zoonosis with potentially very high mortality rates.


2019 ◽  
Vol 179 (2) ◽  
pp. 183-189 ◽  
Author(s):  
Sergio Melogno ◽  
M. Antonietta Pinto ◽  
Fausto Badolato ◽  
Eleonora Sist ◽  
Antonella Esposito ◽  
...  

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