Molecular Advances in Preeclampsia and HELLP Syndrome.

Preeclampsia (PE) constitutes one of the principal reasons for maternal and perinatal morbidity and mortality worldwide. The circumstance typically implicates formerly healthful normotensive women, after 20 weeks of gestation, typically withinside the third trimester, without regarded threat elements or past deliveries. PE can be further complicated with hemolysis and thrombocytopenia, leading to the emergence of HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low platelets). Both conditions are classified as hypertensive diseases of pregnancy (HDP), and their pathogenesis has been linked to an excessive maternal inflammatory response, accompanied by enhanced endothelial activation. Several studies have found that in pregnancies affected by PE/HELLP, von Willebrand factor (vWF) antigen levels (vWF:Ag) are significantly elevated, while its cleaving protease (ADAMTS-13, A Disintegrin-like and Metalloprotease with Thrombospondin type 1 motif, member 13) activity is normal to decreased. Furthermore, the higher urine excretion of the terminal complement complex C5b-9, as well as its greater deposition in the placental surface in preeclamptic women, imply that the utero-placental unit's distinctive deficits are intimately tied to disproportionate complement activation. The goal of this updated evaluation is to provide the most up-to-date molecular advances in the pathophysiology of PE/HELLP syndromes. Recent medical data on vWF:Ag levels in patients with PE, ADAMTS-13, and dysregulation of the complement system, are highlighted and evaluated. Furthermore, we discuss the relationship between those entities and the progression of the disease, as well as their significance in the diagnostic process. Finally, considering the difficulties in analyzing and controlling those symptoms in pregnant women, we can provide a current diagnostic and therapeutic algorithm.

Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern Greece.

Greece is a country of ~11 million people, where hemoglobinopathies are the most common genetic diseases. The reported data describe the clinical phenotype of cases with coinheritance of triplicated α-globin (anti-α3.7 kb) and ß-globin gene mutations in Northern Greece, that were referred within the last 10 years, in The Adult Thalassemia Unit of "Hippokration" Hospital, Thessaloniki, Northern Greece. The description of specific genotypes of the ß-globin gene mutations in coinheritance with the triplicated α-globin gene (anti-α3.7 kb) and correlation with the hematologic and clinical data in adulthood may be useful in the evaluation of pediatric patients' prognosis and in genetic counseling of couples at risk.

Necrobiosis Lipoidica in a Patient with ß-Thalassemia Major: A Case Report and Review of the Literature.

Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigated dermatologic problems that coexist with ß-thalassemia major (ß-TM). The most common skin disorders in patients with ß-TM are xerosis, urticaria, pseudoxanthoma, hyperpigmentation, leg ulcers and small-vessel vasculitis. Necrobiosis lipoidica has only been occasionally reported in patients with ß-TM. Herein, we present a female with ß-TM and NL. Furthermore, a brief review of the literature was performed.

Increased Complement Activation and Decreased ADAMTS13 Activity Are Associated with Genetic Susceptibility in Patients with Preeclampsia/HELLP Syndrome Compared to Healthy Pregnancies: An Observational Case-Controlled Study.

Preeclampsia is a progressive multi-systemic disorder characterized by proteinuria, critical organ damage, and new-onset hypertension. It can be further complicated by HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), resulting in critical liver or renal damage, disseminated coagulation, and grand mal seizures. This study aimed to examine the involvement of ADAMTS13, von Willebrand, and the complement system in the pathogenesis of preeclampsia/HELLP syndrome. We studied 30 Caucasian preeclamptic pregnant women and a control group of 15 healthy pregnancies. Genetic sequencing of ADAMTS13 and complement regulatory genes (MiniSeq System, Illumina) was performed. The modified Ham test was used to check for complement activation, ADAMTS13 activity, von Willebrand antigen (vWFAg) levels, and soluble C5b-9 levels were measured. Patients with preeclampsia had a decreased ADAMTS13 activity and increased C5b-9 levels. The vWFAg was significantly correlated with ADAMTS13 activity (r = 0.497, p = 0.003). Risk-factor variants were found in the genes of ADAMTS13, C3, thrombomodulin, CFB, CFH, MBL2, and, finally, MASP2. A portion of pregnant women with preeclampsia showed a decline in ADAMTS13 activity, correlated with vWFAg levels. These patients also exhibited an elevated complement activation and high-risk genetic variants in regulatory genes. Further research is needed to determine if these factors can serve as reliable biomarkers.

Anetodermic pilomatrixomas: A case series.

Pilomatrixoma is a benign hair follicle tumour. Anetodermic changes overlying pilomatrixoma are rare. The aim of this study is to evaluate a case series of patients with a clinical diagnosis of anetodermic pilomatrixoma presenting to our Dermatology Department over a 5-year period. Eight cases were identified. The median age of onset was 21 years. All cases presented on the upper limbs and trunk with a solitary rapidly evolving tumour, tender on palpation. They had an erythematous protuberant appearance with a wrinkled and atrophic surface. Underlying pilomatrixomas were firm measuring 1-5 cm. Simple excision was carried out in seven cases without postoperative complications. In conclusion, anetodermic pilomatrixoma is a rare variant of this tumour, occurring more frequently on the upper body. It presents with identifiable features and should be differentiated from other skin tumours. Surgical removal is usually the gold standard treatment.

Eosinophilic dermatosis in a patient with chronic lymphocytic leukemia: a rare case report.

Chronic lymphocytic leukemia (CLL) is a type of malignant lymphoproliferative disorder characterized by a rapid and uncontrolled increase in lymphoid cells, mostly monoclonal B-cells (B-CLL). Patients with CLL may present cutaneous lesions that can be classified as either "specific" or "non-specific." In CLL patients, specific skin eruptions arise from leukemic cell infiltration, recognized histopathologically in tissue sample biopsy. Non-specific lesions encompass the majority of eruptions in CLL patients and may present as petechiae, purpura, urticaria, exfoliative dermatitis, paraneoplastic pemphigus, vasculitis, or eosinophilic dermatosis. Eosinophilic dermatosis of hematologic malignancy (EDHM) is a rare cutaneous manifestation that presents as an eruption in various locations and is characterized as papular, pruritic, and sometimes vesicular or vesiculobullous. Here we present a rare and interesting case of a 58-year-old woman with a medical history of B-CLL that was examined at our clinic for evaluation of an unspecified diffuse vesicular pruritic rash. The patient was first diagnosed with CLL 3 years earlier and followed a 6-month course of immuno-chemotherapy with rituximab, fludarabine, and cyclophosphamide. We also performed brief review of previous literature and present the results.

Cutaneous manifestations of mantle cell lymphoma: an extensive literature review.

Mantle cell lymphomas account for about 2 to 10% of non-Hodgkin B-cell lymphomas. Despite the cellular maturity of B-cell lymphomas, the disease is aggressive in the majority of cases and its course is unpredictable. The clinical presentation is variable, and multiple nodal and extranodal manifestations have been described. Cutaneous infiltration is an uncommon (2-6%) location of the disease. An extensive review of the literature was performed, and 24 case reports and five case series were found describing cutaneous locations. These data were thoroughly studied in order to present their clinical and laboratory characteristics in this review.

Beta-thalassemia: renal complications and mechanisms: a narrative review.

OBJECTIVES: Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin chain synthesis, ineffective erythropoiesis, and anemia. Improved survival in thalassemic patients has led to the emergence of previously unrecognized complications, such as renal disease. METHODS: A comprehensive literature review through PubMed was undertaken to summarize the published evidence on the epidemiology and pathophysiology of renal disease in thalassemia. Literature sources published in English since 1990 were searched, using the terms beta-thalassemia, renal disease. RESULTS: Renal disease is considered to be the 4th cause of morbidity among patients with transfusion dependent thalassemia. Chronic anemia, hypoxia and iron overload are the main mechanisms implicated in development of renal injury, whereas several studies also suggested a contributive role of iron chelators. DISCUSSION AND CONCLUSION: Kidney disease may develop through progressive renal tubular and glomerular damage; thus, its early recognition is important in order to prevent and/or reverse deterioration. This review will provide an insight on the involved mechanisms implicated in kidney disease in thalassemic patients and will discuss the updates on diagnosis and prevention of renal complications in thalassemia.