Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome

2002 ◽  
Vol 77 (1) ◽  
pp. 185-187 ◽  
Author(s):  
Juan José Gorgojo ◽  
Francisca Almodóvar ◽  
Elena López ◽  
Sergio Donnay
2016 ◽  
pp. 41-45
Author(s):  
V.N. Goncharenko ◽  

The aim of the study: was improvement of results of surgical treatment of patients of reproductive age eligibility with hyperplastic processes of endometrium (HPE) through the introduction of individualized treatment algorithm with the use of monopolar radio wave and hysteroscopic endometrial ablation. Materials and methods. The study included 62 women with non-atypical form of hyperplasia of the endometrium who were treated at the Center of General gynecology of the clinical hospital «Feofania», gynecological Department at the city maternity hospital № 3 of Kyiv. Depending on the age group, nature of the pathological process and method of treatment is randomized, the distribution of women according to groups: group 1 – 41 women's reproductive eligibility age netipichnaya forms of endometrial hyperplasia (PHEBA and KGEB), who were subjected to hysteroscopic monopolar endometrial ablation; group 2 – 21 female reproductive eligibility age netipichnaya forms of endometrial hyperplasia (PHEBA and KGEB), which was held radiowave ablation of the endometrium (RHAE). In the 1st group the age of patients ranged from 42 to 54 years, mean age was 49.9±4.7 years. In the 2nd group the age of patients ranged from 41 to 53 years, mean age of 51.6±4.3 years. Results. A comparative analysis of the techniques for hysteroscopic monopolar ablation and RHEE showed the fact that for RHEE used local anesthesia, while carrying out hysteroscopic monopolar ablation was necessary intravenous anesthesia. The duration of the hysteroscopic monopolar endometrial ablation was 28.6±5.5 min, RAE – according to the standard method – 44.3±0.3 min. When performing hysteroscopic monopolar endometrial ablation in 2 patients (3.7%) patients observed the signs of intravasation of fluid, increased blood pressure and tachycardia. This syndrome was successfully docked, but in the future, women have conducted a thorough examination. When you run RHAE intraoperative complications have been identified. Conclusion. 1. Women with netipichnaya forms of endometrial hyperplasia eligibility and late reproductive age who do not have reproductive plans as an alternative to hysterectomy, in the presence of contraindications or ineffectiveness of hormone treatment may be recommended or radiowave monopolar hysteroscopic ablation of the endometrium. 2. Monopolar hysteroscopic endometrial ablation is indicated for women with netipichnaya forms of endometrial hyperplasia, can be used in the presence of submucous form of uterine fibroids, postoperative scars on the uterus, but in the absence of adenomyosis II–III degree. The effectiveness of monopolar hysteroscopic endometrial ablation in women with non-atypical form of hyperplasia of the endometrium is 87.8%. 3. Women after endometrial ablation should be under observation for two years. The method of choice for dynamic monitoring of the condition of the uterus in women who underwent endometrial ablation is transvaginal ultrasound which should be performed after 1, 3, 6, 12 and 24 months of follow up. 4. In case of recurrence of hyperplastic process of the endometrium (bleeding, thickening of the M-mode echo according to the ultrasound) shows a hysteroscopy with a mandatory histopathological examination and verification of the diagnosis. Key words: endometrial hyperplasia, women eligibility age, women of reproductive age, ablation of the endometrium.


Author(s):  
A.O. Atykanov ◽  
G.U. Asymbekova ◽  
A.A. Masybaeva

The paper presents quantitative indicators of lipid peroxidation (LP) products and antioxidant support network (ASN) in blood plasma in women with various histological forms of endometrial hyperplastic processes (EHPs). The goal of the paper is to assess the state of LP processes and ASN in women of reproductive age with various forms of EHPs. Materials and Methods. The trial enrolled 137 women of reproductive age: 112 women with endometrial hyperplasia (EH) and 25 women with uterine cavity synechia without EH. Conclusion. In case if EH progresses from a simple atypical form to adenocarcinoma, an increase in lipid peroxidation intensity and ASN inhibition is observed. Keywords: women, endometrial hyperplastic processes, endometrial hyperplasia, lipid peroxidation, antioxidant support network. В работе представлены количественные показатели содержания продуктов перекисного окисления липидов (ПОЛ) и системы антиоксидантной защиты (АОЗ) в плазме крови у женщин с различными гистологическими формами гиперпластического процесса эндометрия (ГПЭ). Цель исследования. Оценить состояние процессов ПОЛ и системы АОЗ при развитии различных форм ГПЭ у женщин репродуктивного возраста. Материалы и методы. Объектом исследования явились 137 женщин репродуктивного возраста: 112 женщин с гиперплазией эндометрия (ГЭ) и 25 женщин с синехиями полости матки без ГЭ. Выводы. При прогрессировании ГЭ от простой неатипичной до аденокарциномы происходит нарастание интенсивности липопереокисления и угнетения системы АОЗ. Ключевые слова: женщины, гиперпластические процессы эндометрия, гиперплазия эндометрия, перекисное окисление липидов, система антиоксидантной защиты.


2021 ◽  
Vol 22 (5) ◽  
pp. 2689
Author(s):  
Jianmin Si ◽  
Chris Van den Haute ◽  
Evy Lobbestael ◽  
Shaun Martin ◽  
Sarah van Veen ◽  
...  

ATP13A2, a late endo-/lysosomal polyamine transporter, is implicated in a variety of neurodegenerative diseases, including Parkinson’s disease and Kufor–Rakeb syndrome, an early-onset atypical form of parkinsonism. Loss-of-function mutations in ATP13A2 result in lysosomal deficiency as a consequence of impaired lysosomal export of the polyamines spermine/spermidine. Furthermore, accumulating evidence suggests the involvement of ATP13A2 in regulating the fate of α-synuclein, such as cytoplasmic accumulation and external release. However, no consensus has yet been reached on the mechanisms underlying these effects. Here, we aimed to gain more insight into how ATP13A2 is linked to α-synuclein biology in cell models with modified ATP13A2 activity. We found that loss of ATP13A2 impairs lysosomal membrane integrity and induces α-synuclein multimerization at the membrane, which is enhanced in conditions of oxidative stress or exposure to spermine. In contrast, overexpression of ATP13A2 wildtype (WT) had a protective effect on α-synuclein multimerization, which corresponded with reduced αsyn membrane association and stimulation of the ubiquitin-proteasome system. We also found that ATP13A2 promoted the secretion of α-synuclein through nanovesicles. Interestingly, the catalytically inactive ATP13A2 D508N mutant also affected polyubiquitination and externalization of α-synuclein multimers, suggesting a regulatory function independent of the ATPase and transport activity. In conclusion, our study demonstrates the impact of ATP13A2 on α-synuclein multimerization via polyamine transport dependent and independent functions.


2007 ◽  
Vol 9 (4) ◽  
pp. 697-699 ◽  
Author(s):  
Sandra Pujadas ◽  
Jordi Punti ◽  
Francesc Carreras ◽  
Ruben Leta ◽  
Guillem Pons-Llado

2021 ◽  
Author(s):  
Eric Lontchi-Yimagou ◽  
Riddhi Dasgupta ◽  
Shajith Anoop ◽  
Sylvia Kehlenbrink ◽  
Sudha Koppaka ◽  
...  

2016 ◽  
Vol 10 (3) ◽  
pp. 251-253 ◽  
Author(s):  
Raquel Quimas Molina da Costa ◽  
Rogério Paysano Marrocos ◽  
Marco Antonio Araujo Leite ◽  
Fabio Henrique Gobbi Porto

ABSTRACT The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.


2018 ◽  
Vol 128 (2) ◽  
pp. 152-156 ◽  
Author(s):  
Adam McCann ◽  
Sameer A. Alvi ◽  
Jessica Newman ◽  
Kiran Kakarala ◽  
Hinrich Staecker ◽  
...  

Background: Cervicofacial actinomycosis is an uncommon indolent infection caused by Actinomyces spp that typically affects individuals with innate or adaptive immunodeficiencies. Soft tissues of the face and neck are most commonly involved. Actinomyces osteomyelitis is uncommon; involvement of the skull base and temporal bone is exceedingly rare. The authors present a unique case of refractory cervicofacial actinomycosis with development of skull base and temporal bone osteomyelitis in an otherwise healthy individual. Methods: Case report with literature review. Results: A 69-year-old man presented with a soft tissue infection, culture positive for Actinomyces, over the right maxilla. Previous unsuccessful treatment included local debridement and 6 weeks of intravenous ceftriaxone. He was subsequently treated with conservative debridement and a prolonged course of intravenous followed by oral antibiotic. However, he eventually required multiple procedures, including maxillectomy, pterygopalatine fossa debridement, and a radical mastoidectomy to clear his disease. Postoperatively he was gradually transitioned off intravenous antibiotics. Conclusions: Cervicofacial actinomycosis involves soft tissue surrounding the facial skeleton and oral cavity and is typically associated with a history of mucosal trauma, surgery, or immunodeficiency. The patient was appropriately treated but experienced disease progression and escalation of therapy. Although actinomycosis is typically not an aggressive bacterial infection, this case illustrates the need for prompt recognition of persistent disease and earlier surgical intervention in cases of recalcitrant cervicofacial actinomycosis. Chronic actinomycosis has the potential for significant morbidity.


Author(s):  
Prema M. Naidu ◽  
Zakia Mehdi
Keyword(s):  

1992 ◽  
Vol 21 (7) ◽  
pp. 459-462 ◽  
Author(s):  
Ernst H. Strübbe ◽  
J. Albert M. Lemmens ◽  
Cornelis J. P. Thijn ◽  
Wim N. P. Willemsen ◽  
Bert S. J. van Toor
Keyword(s):  

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