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BMJ Case Reports Feb 2021
Topics: Female; Humans; Meigs Syndrome
PubMed: 33541974
DOI: 10.1136/bcr-2020-241337 -
The New England Journal of Medicine Oct 2020There is considerable variation in disease behavior among patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes...
BACKGROUND
There is considerable variation in disease behavior among patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes coronavirus disease 2019 (Covid-19). Genomewide association analysis may allow for the identification of potential genetic factors involved in the development of Covid-19.
METHODS
We conducted a genomewide association study involving 1980 patients with Covid-19 and severe disease (defined as respiratory failure) at seven hospitals in the Italian and Spanish epicenters of the SARS-CoV-2 pandemic in Europe. After quality control and the exclusion of population outliers, 835 patients and 1255 control participants from Italy and 775 patients and 950 control participants from Spain were included in the final analysis. In total, we analyzed 8,582,968 single-nucleotide polymorphisms and conducted a meta-analysis of the two case-control panels.
RESULTS
We detected cross-replicating associations with rs11385942 at locus 3p21.31 and with rs657152 at locus 9q34.2, which were significant at the genomewide level (P<5×10) in the meta-analysis of the two case-control panels (odds ratio, 1.77; 95% confidence interval [CI], 1.48 to 2.11; P = 1.15×10; and odds ratio, 1.32; 95% CI, 1.20 to 1.47; P = 4.95×10, respectively). At locus 3p21.31, the association signal spanned the genes , , , , and . The association signal at locus 9q34.2 coincided with the blood group locus; in this cohort, a blood-group-specific analysis showed a higher risk in blood group A than in other blood groups (odds ratio, 1.45; 95% CI, 1.20 to 1.75; P = 1.48×10) and a protective effect in blood group O as compared with other blood groups (odds ratio, 0.65; 95% CI, 0.53 to 0.79; P = 1.06×10).
CONCLUSIONS
We identified a 3p21.31 gene cluster as a genetic susceptibility locus in patients with Covid-19 with respiratory failure and confirmed a potential involvement of the ABO blood-group system. (Funded by Stein Erik Hagen and others.).
Topics: Aged; Female; Humans; Male; Middle Aged; ABO Blood-Group System; Case-Control Studies; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 9; COVID-19; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Italy; Multigene Family; Pandemics; Polymorphism, Single Nucleotide; Respiratory Insufficiency; SARS-CoV-2; Spain
PubMed: 32558485
DOI: 10.1056/NEJMoa2020283 -
Northern Clinics of Istanbul 2022Ovarian tumors are the most common gynecological tumors seen in girls. Approximately 60-70% of them are germ cell tumors. Pseudo-Meigs syndrome is characterized by the...
Ovarian tumors are the most common gynecological tumors seen in girls. Approximately 60-70% of them are germ cell tumors. Pseudo-Meigs syndrome is characterized by the presence of pelvic tumoral mass (benign or malign), pleural effusion, and massive acid. If the tumor is removed, acid and hydrothorax disappear. Endodermal sinus (yolk sac) tumor is a very rare cause in the diagnosis of Pseudo-Meigs syndrome, and only a few cases have been reported. This case is one of the rare cases presenting with Pseudo-Meigs syndrome and pathologically diagnosed as yolk sac tumor.
PubMed: 36530560
DOI: 10.14744/nci.2020.45452 -
Medicina (Kaunas, Lithuania) Sep 2023: Meigs syndrome is represented by a benign adnexal tumor, ascites, and hydrothorax. Even though the ovarian mass is often characterized by a fibroma-like origin, cancer... (Review)
Review
: Meigs syndrome is represented by a benign adnexal tumor, ascites, and hydrothorax. Even though the ovarian mass is often characterized by a fibroma-like origin, cancer antigen-125 (CA-125) serum levels could be elevated as in the development of ovarian cancer. Here, we present the case of a patient with Meigs syndrome and increased CA-125. : We performed systematic research for articles including similar cases in PubMed, EMBASE, and Scopus in February 2023, adopting the string of idioms: "Meigs syndrome AND Cancer antigen 125", and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. : Eligible records were 25. Hydrothorax was right-sided in 10 cases over 25; left-sided in two patients over 25. Concerning ascites, two patients showed more than 6 L of ascitic fluid, whereas three patients had 6 L or less. CA-125 elevation ranged from 149 IU/mL to 3803 IU/mL. Adnexal mass histotypes were: struma ovarii (12 cases), thecomas (two cases), fibrothecomas (five cases), fibromas (five cases), and one sclerosing stromal tumor (SST). : In postmenopausal women with elevated CA-125 serum levels and an adnexal mass suspicious for malignancy at ultrasound (US), ascites and pleural effusion, surgery, and histopathological examination are necessary. MS is a diagnostic option, with an excellent prognosis after exeresis of the mass.
PubMed: 37763803
DOI: 10.3390/medicina59091684 -
Taiwanese Journal of Obstetrics &... Nov 2021Adult-type granulosa cell tumors (GCT) are sex cord-stromal tumors and often accompanied with abdominal distention and hyperestrogenism-related symptoms. Adult-type...
OBJECTIVE
Adult-type granulosa cell tumors (GCT) are sex cord-stromal tumors and often accompanied with abdominal distention and hyperestrogenism-related symptoms. Adult-type GCT-presenting ascites and pleural effusion is extremely rare.
CASE REPORT
A 56-year-old perimenopausal woman presented with abdominal distention and abnormal vaginal spotting. Ultrasound and abdominal computed tomography showed a complex cystic mass in the left ovary accompanied with bilateral pleural effusion and ascites. The patient underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, left pelvic lymph node dissection, omentectomy and appendectomy. Final histopathological diagnosis was adult-type GCT. The patient had postoperative hormone and anti-angiogenesis agent therapy with free of disease.
CONCLUSION
Ovarian cystic complex mass accompanied with ascites and pleural effusion often results from malignant ovarian tumors or benign ovarian fibroma. Based on the aforementioned report, the rare types of ovarian tumors, such as adult-type granulosa cell tumor of the ovary should be taken into consideration.
Topics: Antineoplastic Agents, Hormonal; Ascites; Bevacizumab; Cytoreduction Surgical Procedures; Female; Gonadotropin-Releasing Hormone; Goserelin; Granulosa Cell Tumor; Humans; Laparotomy; Meigs Syndrome; Middle Aged; Ovarian Neoplasms; Ovary; Pleural Effusion; Salpingo-oophorectomy; Treatment Outcome
PubMed: 34794749
DOI: 10.1016/j.tjog.2021.09.028 -
FEMS Microbiology Reviews Nov 2021Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to coronavirus disease 2019 (COVID-19). Virus-specific immunity controls infection,...
Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to coronavirus disease 2019 (COVID-19). Virus-specific immunity controls infection, transmission and disease severity. With respect to disease severity, a spectrum of clinical outcomes occur associated with age, genetics, comorbidities and immune responses in an infected person. Dysfunctions in innate and adaptive immunity commonly follow viral infection. These are heralded by altered innate mononuclear phagocyte differentiation, activation, intracellular killing and adaptive memory, effector, and regulatory T cell responses. All of such affect viral clearance and the progression of end-organ disease. Failures to produce effective controlled antiviral immunity leads to life-threatening end-organ disease that is typified by the acute respiratory distress syndrome. The most effective means to contain SARS-CoV-2 infection is by vaccination. While an arsenal of immunomodulators were developed for control of viral infection and subsequent COVID-19 disease, further research is required to enable therapeutic implementation.
Topics: Adaptive Immunity; COVID-19; Humans; Immunity, Innate; SARS-CoV-2
PubMed: 34160586
DOI: 10.1093/femsre/fuab035 -
Frontiers in Oncology 2023
PubMed: 38162508
DOI: 10.3389/fonc.2023.1330225 -
Cureus Aug 2020Meigs' syndrome is classically characterized as the triad of ascites, pleural effusion, and ovarian fibroma. The incidence is not easily determined but has been...
Meigs' syndrome is classically characterized as the triad of ascites, pleural effusion, and ovarian fibroma. The incidence is not easily determined but has been described in medical literature. We report a case of a patient who presented for shortness of breath and was found to have pleural effusion, ascites, and an ovarian mass. Investigative measures were consistent with Meigs' syndrome; however, definitive diagnosis was not able to be determined as our patient opted for symptomatic treatment rather than pursue surgical options. We discuss the pathophysiology of pleural effusion, ascites, and management of Meigs' and pseudo-Meigs' syndrome. Ultimately, we discuss palliative options for patients who are not ideal candidates for surgery.
PubMed: 32944427
DOI: 10.7759/cureus.9704 -
The Application of Clinical Genetics 2021H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter...
H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs' syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs' syndrome.
PubMed: 33883924
DOI: 10.2147/TACG.S306298