scholarly journals Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)

2021 ◽  
Vol 81 (12) ◽  
pp. 1329-1347
Author(s):  
Peter Oppelt ◽  
Helge Binder ◽  
Jacques Birraux ◽  
Sara Brucker ◽  
Irene Dingeldein ◽  
...  

Abstract Objectives Female genital malformations may be present in the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and uterine appendages, the clinical picture of malformations varies greatly. Methods This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG. The recommendations and statements were developed and voted on using a structured consensus process with neutral moderation. Recommendations This guideline is the first comprehensive summary of female genital malformations from infancy to adulthood which covers clinical examinations, diagnostic workups and treatment options. Additional chapters have been included on complex urogenital malformations, vascular malformations, psychosomatic care, and tumor risk.

2021 ◽  
Vol 81 (12) ◽  
pp. 1307-1328
Author(s):  
Peter Oppelt ◽  
Helge Binder ◽  
Jacques Birraux ◽  
Sara Brucker ◽  
Irene Dingeldein ◽  
...  

Abstract Objectives Female genital malformations may take the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and adnexa, the clinical picture of malformations may vary greatly. Depending on the extent of the malformation, organs of the urinary system or associated malformations may also be involved. Methods This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG. The recommendations and statements were developed using a structured consensus process with neutral moderation and voted on. Recommendations The guideline is the first comprehensive presentation of the symptoms, diagnosis and treatment options for female genital malformations. Additional chapters on classifications and transition were included.


2019 ◽  
Vol 79 (12) ◽  
pp. 1278-1292
Author(s):  
Bettina Toth ◽  
Dunja Maria Baston-Büst ◽  
Hermann M Behre ◽  
Alexandra Bielfeld ◽  
Michael Bohlmann ◽  
...  

Abstract Introduction Supporting and counselling couples with fertility issues prior to starting ART is a multidisciplinary diagnostic and therapeutic challenge. The first German/Austrian/Swiss interdisciplinary S2k guideline on “Diagnosis and Therapy Before Assisted Reproductive Treatments (ART)” was published in February 2019. This guideline was developed in the context of the guidelines program of the German Society of Gynecology and Obstetrics (DGGG) in cooperation with the Swiss Society of Gynecology and Obstetrics (SGGG) and the Austrian Society of Gynecology and Obstetrics (OEGGG). Aims One third of the causes of involuntary childlessness are still unclear, even if the woman or man have numerous possible risk factors. Because the topic is still very much taboo, couples may be socially isolated and often only present quite late to a fertility center. At present, there is no standard treatment concept, as currently no standard multidisciplinary procedures exist for the diagnostic workup and treatment of infertility. The aim of this guideline is to provide physicians with evidence-based recommendations for counselling, diagnostic workup and treatment. Methods This S2k guideline was developed on behalf of the Guidelines Commission of the DGGG by representative members from different professional medical organizations and societies using a structured consensus process. Recommendations The first part of this guideline focuses on the basic assessment of affected women, including standard anatomical and endocrinological diagnostic procedures and examinations into any potential infections. Other areas addressed in this guideline are the immunological workup with an evaluation of the patientʼs vaccination status, an evaluation of psychological factors, and the collection of data relating to other relevant factors affecting infertility. The second part will focus on explanations of diagnostic procedures compiled in collaboration with specialists from other medical specialties such as andrologists, human geneticists and oncologists.


Author(s):  
Lara Bittmann

On December 31, 2019, WHO was informed of cases of pneumonia of unknown cause in Wuhan City, China. A novel coronavirus was identified as the cause by Chinese authorities on January 7, 2020 and was provisionally named "2019-nCoV". This new Coronavirus causes a clinical picture which has received now the name COVID-19. The virus has spread subsequently worldwide and was explained on the 11th of March, 2020 by the World Health Organization to the pandemic.


2020 ◽  
Vol 36 (12) ◽  
pp. 3147-3152
Author(s):  
Helen J. Zhang ◽  
Nicole Silva ◽  
Elena Solli ◽  
Amanda C. Ayala ◽  
Luke Tomycz ◽  
...  

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
K. P. Thompson ◽  
◽  
J. Nelson ◽  
H. Kim ◽  
L. Pawlikowska ◽  
...  

Abstract Background Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the general population, in Denmark’s centre-treated HHT patients. However, clinical phenotypes vary widely in HHT, likely affecting mortality. We aimed to measure predictors of mortality among centre-treated HHT patients. HHT patients were recruited at 14 HHT centres of the Brain Vascular Malformation Consortium (BVMC) since 2010 and followed annually. Vital status, organ vascular malformations (VMs) and clinical symptoms data were collected at baseline and during follow-up (N = 1286). We tested whether organ VMs, HHT symptoms and HHT genes were associated with increased mortality using Cox regression analysis, adjusting for patient age, sex, and smoking status. Results 59 deaths occurred over average follow-up time of 3.4 years (max 8.6 years). A history of anemia was associated with increased mortality (HR = 2.93, 95% CI 1.37–6.26, p = 0.006), as were gastro-intestinal (GI) bleeding (HR = 2.63, 95% CI 1.46–4.74, p = 0.001), and symptomatic liver VMs (HR = 2.10, 95% CI 1.15–3.84, p = 0.015). Brain VMs and pulmonary arteriovenous malformations (AVMs) were not associated with mortality (p > 0.05). Patients with SMAD4 mutation had significantly higher mortality (HR = 18.36, 95% CI 5.60–60.20, p < 0.001) compared to patients with ACVRL1 or ENG mutation, but this estimate is imprecise given the rarity of SMAD4 patients (n = 33, 4 deaths). Conclusions Chronic GI bleeding, anemia and symptomatic liver VMs are associated with increased mortality in HHT patients, independent of age, and in keeping with the limited treatment options for these aspects of HHT. Conversely, mortality does not appear to be associated with pulmonary AVMs or brain VMs, for which patients are routinely screened and treated preventatively at HHT Centres. This demonstrates the need for development of new therapies to treat chronic anemia, GI bleeding, and symptomatic liver VMs in order to reduce mortality among HHT patients.


Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 532
Author(s):  
Dorota Wesół-Kucharska ◽  
Dariusz Rokicki ◽  
Aleksandra Jezela-Stanek

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.


PEDIATRICS ◽  
1984 ◽  
Vol 73 (4) ◽  
pp. 546-549
Author(s):  
D. H. JOHNSON ◽  
A. M. VINSON ◽  
F. H. WIRTH ◽  
H. J. PRESBERG ◽  
G. HARKINS ◽  
...  

Hepatic hemangioendotheliomas are uncommon vascular tumors which present as abdominal masses, unexplained jaundice, bleeding disorders, or congestive heart failure.1-3 Death often results from congestive heart failure despite appropriate treatment with digoxin and diuretics.4 Verification of hepatic vascular malformations rests on selective angiography,5 hepatic scintigraphy,6 computed tomography,7 and abdominal ultrasonography.8 Successful treatment of heart failure depends on elimination of the malformation's left-to-right shunt and its adverse cardiac effects. Present theapeutic recommendations for symptomatic patients remain divided. Treatment options include surgical excision of localized lesions,9 hepatic artery ligation,10 radiation,11 and glucocorticoid therapy12,13, often combinations of these programs are used.


2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Rekha Chandra Mani ◽  
Anchu Rachel Thomas ◽  
Premkumar Elavarasu ◽  
Vijay Venkatesh

Vascular anomalies are localized defects in the vasculature that may or may not be present at birth. There are many types of vascular anomalies with different aetiology and clinical picture and, therefore, require the combined expertise of medical, radiological, and surgical specialities for its diagnosis and management. The term “haemangioma” is used as a common generic label to incorporate all types of vascular malformations. In this report, we describe a case of two maxillary premolars, requiring endodontic therapy, in close proximity to a haemangioma. The challenges encountered in the diagnosis and management of the case are discussed.


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