Relapse of immune-mediated thrombotic thrombocytopenic purpura following mRNA COVID-19 vaccination: a prospective cohort study

Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare and life-threatening disease. Vaccination has been reported to be a trigger of onset and relapse of autoimmune diseases. We evaluated after mRNA COVID-19 vaccination 32 adult patients previously diagnosed with iTTP by means of weekly monitoring of complete blood count and ADAMTS13 testing. Thirty of 32 patients received at least one dose of Pfizer-BioNTech, the remaining two received Moderna. A total of five patients, all vaccinated with Pfizer-BioNTech, had a biochemical relapse at a median post-vaccination time of 15 days following the second or third vaccine dose, presenting without measurable ADAMTS13 activity and a median anti- ADAMTS13 autoantibody value of 34 U/mL. Four of five cases had concomitant clinical relapse and were treated with corticosteroids alone or daily sessions of plasma exchange and caplacizumab, while one patient was closely monitored with ADAMTS13 with no onset of anemia and thrombocytopenia. Although the benefits of vaccination exceed its potential risks, clinicians should be aware that iTTP relapse might follow COVID-19 vaccination. Therefore, laboratory and clinical monitoring of iTTP patients should be done in the first post-vaccination month, in order to promptly diagnose and treat any relapse

Endometriosis and strategies of fertility preservation: a systematic review of the literature

Endometriosis is a common chronic inflammatory disorder, often causing both pain and infertility. It is estimated that 25-50 % of patients undergoing fertility treatments have had endometriosis as it involves an impairment of the ovarian reserve. For these reasons, endometriosis has been highlighted as a condition that may require a fertility preservation procedure, while being benign in nature. The aim of this review is to summarize the current evidence on fertility preservation techniques for patients affected by endometriosis, focusing on the main characteristics of the different approaches. A systematic review of literature was performed by searching in the main electronic databases (MEDLINE, EMBASE, Web of Science, Scopus, ClinicalTrial.gov, OVID and Cochrane Library), from their inception to February 2020 for studies testing fertility preservation (FP) techniques. Only scientific publications in English were included. Risk of Bias Assessment was performed. Eight articles were included in the study: 3 case reports (one paper reporting 2 cases), 1 prospective longitudinal analysis with only 1 reported case with criteria for inclusion in the review, 2 retrospective observational studies and 2 retrospective cohort studies. The results of our analysis showed embryo (1 article), oocyte (4 articles) and ovarian tissue cryopreservation (3 articles) as preservation methods proposed in international literature for patients with endometriosis. Only few authors reported details on successive outcomes. After ovarian tissue transplantation, 1 pregnancy with IVF and 1 case of endocrine function/ovulation recovery were described; six of 16 endometriotic patients, who underwent embryo cryopreservation, experienced livebirths after successive embryo-transfer; in a large series of 485 patients performing oocyte cryopreservation, an overall cumulative live-birth rate/patient of 46.4 % (225 babies) was reported. Based on the risk of premature ovarian failure related to endometriosis, the offer of FP techniques to these patients has significantly increased, as well as the reported experiences in recent medical literature. However, further studies concerning risks, benefits, effectiveness and cost-effectiveness are needed

Unexpected finding of urachal remnant cyst. Tips for laparoscopic approach

INTRODUCTION: Incomplete obliteration of the urachal lumen could cause different types of anomalies and urachal cystis the most common among these in the adult population. Itis usually asymptomatic and may be an incidental finding during a surgical exploration for other reasons. However, it can be subject to complications. PRESENTATION OF CASE: A 38-year-old female patient with history of worsening lower-quadrants abdominal pain, associated with fever and chills, presented to emergency room; clinical examination revealed a painful, tender, and fixed lump to the left inferior abdominal quadrant. Ultrasound reveled a left adnexal mass and, along the midline, between the adnexal mass, the bladder and the uterus, was evident a 3-cm unilocular cyst with regular walls and hypoechoic content. MRI confirmed the suspicion of a left tuboovarian abscess and suggested a diagnosis of urachal remnant for the smaller midline cyst. In this report, we describe the step-by-step laparoscopic management of the case, paying attention to “the tips and tricks” for urachal cyst excision. DISCUSSION: The urachal cyst, which results from the accumulations of secretions in urachal remnant, presents as a single or multiple parietal abdominal mass, per se asymptomatic. However, this condition is not without risk and infection represents the most common complication. Ultrasound is very useful in the diagnostic phase. Today, the main approach has become laparoscopic excision, with particular attention to a radical removing of the mass, due to high recurrence rate and the risk of malignancy. CONCLUSION: In our experience, laparoscopy represents an excellent diagnostic and therapeutic tool for urachal cyst, especially for patients with acute urgent conditions, doubtful clinical history, and no clear signs or symptom

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

Background: Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring. Chitotriosidase has been used over the last 20 years to assess the severity of GD, but lacks specificity in GD patients. Conversely, the deacylated form of glucosylceramide, glucosylsphingosine (also known as lyso-Gb1), represents a more reliable biomarker characterized by its high sensitivity and specificity in GD. Main text: Herein, we review the current literature on lyso-Gb1 and describe evidence supporting its usefulness as a biomarker for diagnosing and evaluating disease severity in GD and monitoring treatment efficacy. Conclusion: Lyso-Gb1 is the most promising biomarker of GD, as demonstrated by its reliability in reflecting disease burden and monitoring treatment response. Furthermore, lyso-Gb1 may play an important role in the onset of monoclonal gammopathy of uncertain significance, multiple myeloma, and Parkinson's disease in GD patients