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1.
Gynecol Oncol Rep ; 41: 100988, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35586702

RESUMO

Primary mediastinal large B- cell lymphoma (PMLBCL) is a mature aggressive B-cell lymphoma which affects mainly young and middle-aged women. The majority of patients present with bulky mediastinal lymphadenopathy. Extranodal involvement is a rare phenomenon at disease presentation. Herein, we describe a case of a young female with PMLBCL presenting with symptomatic, bulky ovarian involvement. The 23-year old patient presented at the Emergency Department with abdominal pain. The chest X-ray film revealed a mediastinal mass and CT scan revealed a large pelvic mass, possibly involving the ovaries. Due to the development of signs of acute abdomen, she was urgently transferred to the operation room where surgical resection of the right ovary and the adjacent mass was performed. The histological examination of the resected material revealed proliferation of PMLBCL cells. This is the first report in the scientific literature describing symptomatic ovarian mass as the initial mode of presentation of PMLBCL.

2.
Cureus ; 14(12): e33090, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36721555

RESUMO

Laron syndrome is a rare, genetic, growth hormone insensitivity disorder caused by mutations in the growth hormone receptor gene. Affected patients have severe postnatal growth failure, characteristic facial features, and metabolic abnormalities, including severe obesity and metabolic syndrome. Women with Laron syndrome are usually subfertile, mainly due to obesity and metabolic dysregulation, and require treatment for their chronic reproductive dysfunction. To date, infertility in Laron syndrome patients is a rarely addressed problem and, as a result, adequate data regarding its treatment are lacking. Here we present, for the first time in the literature, a rare case of successful treatment of a young woman with Laron syndrome who suffered from infertility due to hyperprolactinemia.

3.
Curr Pharm Des ; 27(11): 1396-1406, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33155904

RESUMO

Essential hypertension is an important cause of cardiovascular morbidity and mortality worldwide with significant clinical and economic implications. The field of antihypertensive treatment already numbers numerous agents and classes of drugs. However, patients are still developing uncontrolled hypertension. Hence there is a continuous need for novel agents with good tolerability. Advances in this field are focusing both on pharmacotherapy, with the developments in traditional and non-traditional targets, as well as interventional techniques such as renal denervation and baroreflex activation therapy. It is likely that future strategies may involve a tailored approach to the individual patient, with genetic modulation playing a key role.


Assuntos
Hipertensão , Preparações Farmacêuticas , Anti-Hipertensivos/farmacologia , Anti-Hipertensivos/uso terapêutico , Barorreflexo , Pressão Sanguínea , Humanos , Hipertensão/tratamento farmacológico
4.
Case Rep Womens Health ; 28: e00265, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33163367

RESUMO

INTRODUCTION: This case report describes a fetus with compound heterozygosity for Hb G-Hsi-Tsou and beta thalassemia, diagnosed in a healthy pregnancy. To the best of our knowledge, this is the first documented case of compound heterozygosity and the woman is the second known case of heterozygosity for Hb G-Hsi-Tsou. CASE PRESENTATION: A 34-year-old woman during her first pregnancy underwent hemoglobin electrophoresis which revealed heterozygosity for Hb G-Hsi-Tsou. Hemoglobin G-Hsi-Tsou constitutes a hemoglobin variant with a structural abnormality of the beta chain, first described in 1972, but since then no other cases have been reported. After finding out that her husband was heterozygous for beta thalassemia, chorionic villus sampling revealed the embryo's heterozygosity for both Hb G-Hsi-Tsou and beta thalassemia. Due to lack of scientific data, the couple decided to end the pregnancy. CONCLUSION: It was not possible to determine whether the fetus would present serious deficiencies in hematopoiesis, as Hb G-Hsi-Tsou is a variant which is not yet fully understood. What made this case even more complex was the simultaneous presence of the beta thalassemia allele.

5.
Artigo em Inglês | MEDLINE | ID: mdl-17909283

RESUMO

The restriction endonuclease PvuII from Proteus vulgaris has been converted from its wild-type homodimeric form into the enzymatically active single-chain variant scPvuII by tandemly joining the two subunits through the peptide linker Gly-Ser-Gly-Gly. scPvuII, which is suitable for the development of programmed restriction endonucleases for highly specific DNA cleavage, was purified and crystallized. The crystals diffract to a resolution of 2.35 A and belong to space group P4(2), with unit-cell parameters a = b = 101.92, c = 100.28 A and two molecules per asymmetric unit. Phasing was successfully performed by molecular replacement.


Assuntos
Desoxirribonucleases de Sítio Específico do Tipo II/química , Engenharia de Proteínas , Cristalização , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Desoxirribonucleases de Sítio Específico do Tipo II/isolamento & purificação , Escherichia coli/enzimologia , Escherichia coli/genética , Engenharia de Proteínas/métodos , Proteus vulgaris/enzimologia , Proteínas Recombinantes/química , Proteínas Recombinantes/genética , Proteínas Recombinantes/isolamento & purificação , Difração de Raios X
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