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Cureus Apr 2020Human T-cell lymphotropic virus type I (HTLV-I) is a retrovirus related to infectious myelopathies, neoplasms, lymphomas, leukemias, and amyotrophic lateral sclerosis...
Human T-cell lymphotropic virus type I (HTLV-I) is a retrovirus related to infectious myelopathies, neoplasms, lymphomas, leukemias, and amyotrophic lateral sclerosis (ALS). It is acquired through sexual transmission, transfusion of blood products, and breastfeeding. The increased expression of human endogenous retrovirus K (HERV-K) in the brain tissue of patients with ALS has been demonstrated, a finding that supports the relationship between the virus and this disease. Therapeutic options include supportive measures and symptomatic treatment with anti-inflammatory medications including steroids, cyclosporines, pentoxifylline, danazol, interferons, and vitamin C. New management proposals are being implemented with valproic acid that acts to facilitate the recognition of the virus by the immune system and with zidovudine antivirals focused on reducing viral load. The purpose of this paper is to describe a clinical case that exhibits clinical signs and evidence of motor neuron compromise as described in electrophysiology studies along with positive laboratory tests for the HTLV-I virus.
PubMed: 32377479
DOI: 10.7759/cureus.7531 -
Annals of Hematology Jun 2020Ruxolitinib is a targeted drug to treat myelofibrosis (MF). Ruxolitinib has significant advantages in spleen reduction and increasing 5-year overall survival (OS), and... (Review)
Review
Ruxolitinib is a targeted drug to treat myelofibrosis (MF). Ruxolitinib has significant advantages in spleen reduction and increasing 5-year overall survival (OS), and ruxolitinib-based combinations might provide more benefits than ruxolitinib monotherapy. In this review, we focus on the data of ruxolitinib-based combinations therapies and treatment-related adverse events (AEs) and safety. We analyzed and summarized the data of ruxolitinib-based combinations. Ruxolitinib combined with prednisone + thalidomide + danazol (TPD), panobinostat, pracinostat, azacytidine, or hydroxyurea has well reduced spleen. Ruxolitinib combined with danazol or TPD had well therapies in improvement of hemoglobin (Hgb) and platelets (PLT). Most ruxolitinib-based combinations therapies showed a superior benefit on reduced treatment-related AEs than ruxolitinib monotherapy. Treatment-related AEs and dose modification affect the safety and tolerability of ruxolitinib-based combinations. Genetic testing before treatment is recommended. To provide better clinical guidance, comparisons of these randomized controlled trials with the trials of ruxolitinib alone are necessary. This review suggests that the clinical application of ruxolitinib-based combinations is worth waiting for.
Topics: Clinical Trials as Topic; Drug Therapy, Combination; Humans; Immunologic Factors; Nitriles; Primary Myelofibrosis; Pyrazoles; Pyrimidines; Treatment Outcome
PubMed: 32333155
DOI: 10.1007/s00277-020-04028-z -
Annals of Medicine and Surgery (2012) Apr 2020Mastalgia is a common condition that may affect up to two-thirds of patients during the reproductive period. It can be divided into cyclical and noncyclical. It is...
INTRODUCTION
Mastalgia is a common condition that may affect up to two-thirds of patients during the reproductive period. It can be divided into cyclical and noncyclical. It is mostly due to benign causes, but breast cancer should be excluded. It may be associated with a high level of stress and anxiety. Patients need to be assessed fully, breast and general examinations, and investigations such as breast imaging and hormonal assay.
PATIENTS AND METHODS
This is a prospective study that was done in the breast clinic in the period between February 2019 and July 2019. A total number of 445 patients with mastalgia included were in the study. Patients were examined and evaluated using various imaging modalities.
RESULTS
The mean age of the patients was 34 years. Mastalgia was present in 54.2% of our patients, in about 70.1% of our patients it was noncyclical mastalgia. Mastalgia was positively correlated with smoking, oral contraceptive pills, and positive family history of breast cancer (p values: 0.000, 0.009, and 0.000) respectively with no correlation with other factors. The type of pain was less in women having early first pregnancy and with the site of the pain showed a positive correlation with the type of pain, (p values: 0.001 and 0.000) respectively.
CONCLUSION
Mastalgia is a common complaint which may affect most females. It is caused by benign breast disorders in the majority of patients. A systematic approach must be followed for the management of mastalgia. Reassurance, regular exercise, and local analgesics may be very effective initial measures. In severe, intractable cases, hormonal therapy may be used.
PubMed: 32194960
DOI: 10.1016/j.amsu.2020.02.012 -
PloS One 2020Patients affected by angioedema due to hereditary and acquired C1-inhibitor (C1-INH) deficiency (HAE and AAE, respectively) report trouble accessing dental care, due to... (Observational Study)
Observational Study
BACKGROUND
Patients affected by angioedema due to hereditary and acquired C1-inhibitor (C1-INH) deficiency (HAE and AAE, respectively) report trouble accessing dental care, due to the risk of a life-threatening oropharyngeal and laryngeal attack triggered by dental procedures. The aim of this study was to assess the identification of hurdles in receiving dental care, and the effectiveness of short-term prophylaxis (STP) in preventing angioedema attacks. In addition, the study evaluated the impact of dental care in angioedema disease. All patients affected by angioedema due to C1-INH deficiency who were treated in the dentistry outpatient department of ASST Fatebenefratelli Sacco hospital (Milan, Italy) between 2009 and 2017 were considered for the analysis. Data were collected from patients' records.
RESULTS
Twenty-nine patients were analyzed (27 with HAE and 2 with AAE). Of these, 63.0% reported that they had previously experienced hurdles in accessing dental care. Among patients with pathological oral status, at the first visit, 59.26% patients had moderate-to-severe oral disease. Seventy-five dental procedures were performed in 20 patients. Sixty procedures were preceded by STP (58 with plasma-derived C1-INH and 2 with danazol) in patients with/without long-term prophylaxis (LTP). Post-procedural attacks occurred in two patients. One HAE patient undergoing a tooth extraction without STP/LTP experienced a laryngeal attack. The other post-procedural attack occurred in an AAE patient with anti-C1-INH antibodies with STP with pdC1-INH. The angioedema disease did not worsen in any patient after dental care, but improved in four of them.
CONCLUSIONS
Most C1-INH-HAE patients reported hurdles in receiving dental care. STP protects against attacks after dental procedures. Treating oral diseases results in improvement in the frequency of attacks.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Angioedema; Angioedemas, Hereditary; Child; Complement C1 Inhibitor Protein; Danazol; Dental Prophylaxis; Female; Humans; Italy; Male; Middle Aged; Treatment Outcome; Young Adult
PubMed: 32163480
DOI: 10.1371/journal.pone.0230128 -
British Journal of Haematology Jun 2020Progressive cytopenia is a serious complication among paediatric patients with inherited bone marrow failure syndromes (IBMFS). Androgens have been used to improve blood...
Progressive cytopenia is a serious complication among paediatric patients with inherited bone marrow failure syndromes (IBMFS). Androgens have been used to improve blood counts in different bone marrow failure conditions. Little is known about efficacy and toxicity with new androgens (i.e., danazol) in different types of IBMFS. We identified 29 patients from the Canadian Inherited Marrow Failure Registry, who received oxymetholone or danazol. Sixteen (55%) had haematological response including patients with unclassified IBMFS (45%). Danazol showed a better toxicity profile and similar efficacy compared to oxymetholone. Androgens are an effective and safe option to ameliorate bone marrow failure in IBMFS.
Topics: Adolescent; Adult; Androgens; Bone Marrow Failure Disorders; Canada; Cell Lineage; Child; Child, Preschool; Combined Modality Therapy; Danazol; Disease Progression; Drug Substitution; Female; Hematopoietic Stem Cell Transplantation; Humans; Infant; Male; Middle Aged; Oxymetholone; Pancytopenia; Registries; Thrombocytopenia; Treatment Outcome; Virilism
PubMed: 32128787
DOI: 10.1111/bjh.16445 -
Orphanet Journal of Rare Diseases Feb 2020Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is... (Observational Study)
Observational Study
BACKGROUND
Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. Aim of this observational, retrospective study is to report about the efficacy of various treatments for acute attacks and long-term prophylaxis.
RESULTS
The study included 111 patients with HAE-PLG. Thirteen patients were treated with icatibant for 201 acute swelling attacks. The mean duration of the treated attacks (mean 4.3 h; standard deviation [SD] 2.6 h) was significantly shorter than that of the previous 149 untreated attacks (mean 44.7 h; SD 28.6 h, p < 0.0001). Twelve patients were treated with plasma-derived C1-INH for 74 acute swelling attacks. The duration of the treated attacks (mean 31.5 h; SD 18.6 h) was significantly shorter than that of the previous 129 untreated in the same patients (mean 48.2 h; SD 32.5 h, p < 0.0001). Corticosteroids alone showed good response in 61/268 attacks (8 patients), low response in 82/268 attacks (7 patients), and no response in 125/268 attacks (26 patients). Corticosteroids combined with antihistamines showed good response in 13/309 attacks (4 patients), low response in 150/309 attacks (7 patients), and no response in 146/309 attacks (17 patients). Antihistamines alone were ineffective in all 37 attacks of 5 patients. In 2 patients with imminent asphyxiation due to tongue swelling and partial obstruction of the upper airways fresh frozen plasma was used without clinical response. The mean reduction in attack frequency was 46.3% under progestins (6 patients), 93.9% under tranexamic acid (3 patients) and 83.3% under danazol (3 patients).
CONCLUSIONS
For patients with HAE-PLG various treatment options are available, which completely or at least partially reduce attack duration or attack frequency.
Topics: Angioedema; Angioedemas, Hereditary; Complement C1 Inhibitor Protein; Humans; Plasminogen; Retrospective Studies
PubMed: 32066472
DOI: 10.1186/s13023-020-1334-8 -
Biomedicines Feb 2020A link between telomere shortening and oxidative stress was found in aging people and patients with cancer or inflammatory diseases. Extracts of spp. are known to...
A link between telomere shortening and oxidative stress was found in aging people and patients with cancer or inflammatory diseases. Extracts of spp. are known to stimulate telomerase activity, thereby compensating telomere shortening. We characterized a multi-component hydroethanolic root extract (HRE) of Bunge and assessed its effects on telomeres compared to those of danazol. Astragalosides I to IV, flavonoids, amino acids and sugars were detected in the HRE. Samples of peripheral blood lymphocytes with short telomeres from 18 healthy donors (mean age 63.5 years; range 3286 years) were exposed to a single dose of 1 µg/mL HRE or danazol for three days. Telomere length and telomerase expression were then measured. Significant elongation of telomeres associated to a less toxicity was observed in lymphocytes from 13/18 donors following HRE treatment (0.54 kb (0.15-2.06 kb)) and in those from 9/18 donors after danazol treatment (0.95 kb (0.06-2.06 kb)). The rate of cells with short telomeres (<3 kb) decreased in lymphocytes from all donors after exposure to either HRE or danazol, telomere elongation being telomerase-dependent. These findings suggest that the HRE could be used for the management of age-related diseases.
PubMed: 32059353
DOI: 10.3390/biomedicines8020031 -
Caspian Journal of Internal Medicine 2020Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The...
BACKGROUND
Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time.
METHODS
Between 2006 and 2016, data of seven BSS patients who have long been diagnosed and treated as ITP were collected and analyzed.
RESULTS
Two patients were males and 5 were females. The patient's age range was between one day and four years at the onset of symptoms. Easy bruising, nose bleeds and mucocutaneous bleeding were the most frequent symptoms. Bleeding attacks of the gum, gastrointestinal tract and menorrhagia also occurred and in one case bleeding in the injection site of the first vaccination was reported. In 6 patients, parents were relatives and in three cases, there was a family history of low platelet counts. Variable thrombocytopenia, prolonged bleeding time (BT), and large platelets with increased bone marrow megakaryocyte were seen in all cases. Most patients were treated with steroids, Intravenous immunoglobulin (IVIG), and some with IV anti-D, Azathioprine, Danazol, Rituximab. Splenectomy was performed in one case. In supplementary tests the platelet aggregation to ristocetin was absent and GPIb expression level by flow cytometry method was lower than 10%.
CONCLUSION
BSS should always be considered in differential diagnosis of ITP especially in persistent and refractory ITP.
PubMed: 32042394
DOI: 10.22088/cjim.11.1.105 -
British Journal of Haematology Jun 2020The therapy algorithm for severe aplastic anaemia (sAA) is established but moderate AA (mAA), which likely reflects a more diverse pathogenic mechanism, often represents... (Comparative Study)
Comparative Study
The therapy algorithm for severe aplastic anaemia (sAA) is established but moderate AA (mAA), which likely reflects a more diverse pathogenic mechanism, often represents a treatment/management conundrum. A cohort of AA patients (n = 325) was queried for those with non-severe disease using stringent criteria including bone marrow hypocellularity and chronic persistence of moderately depressed blood counts. As a result, we have identified and analyzed pathological and clinical features in 85 mAA patients. Progression to sAA and direct clonal evolution (paroxysmal nocturnal haemoglobinuria/acute myeloid leukaemia; PNH/AML) occurred in 16%, 11% and 1% of mAA cases respectively. Of the mAA patients who received immunosuppressive therapy, 67% responded irrespective of time of initiation of therapy while conservatively managed patients showed no spontaneous remissions. Genomic analysis of mAA identified evidence of clonal haematopoiesis with both persisting and remitting patterns at low allelic frequencies; with more pronounced mutational burden in sAA. Most of the mAA patients have autoimmune pathogenesis similar to those with sAA, but mAA contains a mix of patients with diverse aetiologies. Although progression rates differed between mAA and sAA (P = 0·003), cumulative incidences of mortalities were only marginally different (P = 0·095). Our results provide guidance for diagnosis/management of mAA, a condition for which no current standard of care is established.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Algorithms; Anemia, Aplastic; Autoimmune Diseases; Benzoates; Blood Transfusion; Bone Marrow; Child; Child, Preschool; Clonal Evolution; Combined Modality Therapy; Danazol; Disease Management; Disease Progression; Female; Hematopoiesis; Hematopoietic Stem Cell Transplantation; Hematopoietic Stem Cells; Hemoglobinuria, Paroxysmal; Humans; Hydrazines; Immunosuppressive Agents; Kaplan-Meier Estimate; Leukemia, Myeloid, Acute; Male; Middle Aged; Mutation; Pyrazoles; Severity of Illness Index; Young Adult
PubMed: 32004386
DOI: 10.1111/bjh.16460 -
International Journal of Women's... Dec 2019Cutaneous endometriosis is a disorder that primarily affects women of reproductive age. The disorder is most commonly associated with cyclical pain during menses, but it...
Cutaneous endometriosis is a disorder that primarily affects women of reproductive age. The disorder is most commonly associated with cyclical pain during menses, but it can be difficult to diagnose in the absence of these symptoms and requires biopsy testing for a definitive diagnosis. We report on a case of a 41-year-old patient undergoing hormonal therapy for infertility who presented with a painful firm subcutaneous nodule in the umbilicus. She was ultimately diagnosed with cutaneous endometriosis and underwent surgical excision. In this report, we discuss the differential diagnosis and comment on treatment options, including surgical excision with wide margins or treatment with hormonal agents, such as danazol or leuprolide. Finally, we discuss whether patients with cutaneous endometriosis should receive an additional evaluation for pelvic endometriosis.
PubMed: 31909163
DOI: 10.1016/j.ijwd.2019.06.025