Klinefelter's syndrome with systemic lupus erythematosus and atrial fibrillation.

We describe a 65-year-old man who presented with arthralgia, reduced body hair and gynecomastia. He showed severe pancytopaenia. Laboratory examination revealed high follicle-stimulating hormone, low testosterone and oestradiol, elevated antinuclear antibodies, anti-dsDNA and ESR levels, as well as low complement levels. An electrocardiogram showed atrial fibrillation. Computed tomography and dual-energy x-ray absorptiometry showed pleural effusion and osteoporosis. Chromosome analysis revealed 47, XXY karyotype. The unifying diagnosis was therefore Klinefelter's syndrome (KS) with systemic lupus erythematosus (SLE), with manifestations of pancytopaenia, atrial fibrillation, serositis and osteoporosis. After immunosuppressive therapy, his physical condition and pancytopaenia improved. Sex hormones and gene escape from X chromosome inactivation may contribute to the pathogenesis of SLE. Clinicians should consider autoimmune processes when patients with KS present with pancytopaenia or additional features of a systemic autoimmune disorder. PMID: 31551034 [PubMed - as supplied by publisher]
Source: Lupus - Category: Rheumatology Authors: Tags: Lupus Source Type: research

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Authors: Kamar-Matias A, Laron Z PMID: 32780959 [PubMed - in process]
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
ConclusionsThe method was used successfully to process a large dataset to classify atrophy, to measure alveolar height parameters, and to quantify maxillary sinus volume, bottom volume and pneumatisation.Clinical relevanceApart from the anthropometric value of the generated dataset, the method could be applied to provide additional and more accurate data to assess the necessity of bone augmentation in the context of three-dimensional planning before implantation.
Source: Clinical Oral Investigations - Category: Dentistry Source Type: research
Authors: Kamizono Y, Ikeda D Abstract A 77-year-old woman was admitted to our hospital with severe ongoing chest pain. Electrocardiography showed ST-segment elevation in the inferior leads and tall R waves in leads V1-2. Posterior-inferior myocardial infarction was diagnosed. Emergent coronary angiography (CAG) revealed the wrap-around left anterior descending artery (LAD) with total occlusion distal to the cardiac apex. She underwent percutaneous coronary intervention (PCI). Despite difficulty navigating the long and tortuous LAD, we successfully performed reperfusion of the wrap-around LAD. CAG post-PCI showed th...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Hasegawa Y, Arinuma Y, Tanaka S, Tono T, Tanaka T, Muramatsu T, Kondo J, Matsueda Y, Hoshiyama T, Wada T, Takayama Y, Yamaoka K Abstract A 40-year-old man with systemic lupus erythematosus taking consecutive oral corticosteroids developed a high-grade fever and disorder of consciousness following acute rhinitis. Haemophilus influenzae type f (Hif) was found and isolated from the blood and cerebrospinal fluid by culture, leading to a diagnosis of meningitis. The prevalence of H. influenzae type b (Hib) infections has decreased due to routine immunization. As a result, the prevalence of invasive non-Hib, inc...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Abstract Pulmonary hypertension (PH) is a well-known complication of sarcoidosis, defined by a mean pulmonary artery pressure of ≥25 mm Hg. Since both PH and sarcoidosis are rare diseases, data on sarcoidosis-associated PH (SAPH) is retrieved mostly from small retrospective studies. Estimated prevalence of SAPH ranges from 3% in patients referred to a tertiary center up to 79% in patients awaiting lung transplant. Most patients with SAPH show advanced parenchymal disease as the underlying mechanism. However, some patients have disproportional elevated pulmonary artery pressure, and PH can occur in sarcoi...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Semin Respir Crit Care Med Source Type: research
Abstract Abnormal calcium metabolism in sarcoidosis patients can lead to hypercalcemia, hypercalciuria, and kidney stones. Hypercalcemia in sarcoidosis is usually due to increased activity of 1α-hydroxylase in macrophages of pulmonary granulomata, resulting in low levels of 25-hydroxyvitamin D and high levels of calcitriol. Vitamin D supplementation may be dangerous for some sarcoidosis patients and is recommended only for those with decreased 25-hydroxyvitamin D and reduced or normal calcitriol level. Diagnosis, treatment of osteoporosis, and maintenance of bone health are complex issues for sarcoidosis pat...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Semin Respir Crit Care Med Source Type: research
CONCLUSION: Cytopenia may be the first finding of an immunodeficiency or autoimmune disease and primary disease may be diagnosed in the clinical course. Taking the new targeted treatment options into consideration; early diagnosis is likely to become more important in the near-future in order to begin the treatment for the underlying disease as early as possible. PMID: 32779404 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
Abstract Malignant transformation is a rare complication of the mature cystic teratoma of the ovary. Most of these histologic types are squamous cell carcinoma, and other types are exceptionally rare. Here, we present an extremely rare histology of malignant transformation, an undifferentiated carcinoma, arising in mature cystic teratoma of the ovary. A 48-year-old woman was referred due to abdominal distension and palpable pelvic mass. Computed tomography showed 16- and 12-cm-diameter mixed solid and cystic tumors in bilateral ovaries. Surgical exploration revealed bilateral ovarian tumors with multiple nodules o...
Source: International Journal of Clinical and Experimental Pathology - Category: Pathology Authors: Tags: Int J Clin Exp Pathol Source Type: research
Abstract Osteoporosis and osteoporosis-related fractures are common causes of morbidity and mortality in older adults. Healthy adults should be counseled about measures to prevent osteoporosis. Women should be screened for osteoporosis beginning at age 65. Screening for osteoporosis in men should be considered when risk factors are present. Appropriate screening intervals are controversial. Women and men with osteoporosis should be offered pharmacologic therapy. Choice of therapy should be based on safety, cost, convenience, and other patient-related factors. Bisphosphonates are a first-line therapy for many patie...
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
ConclusionThe present patient suffered from a probable “autoimmune depression” in the context of newly diagnosed multiple sclerosis with typical MRI and CSF pathologies, alongside mild concomitant latent systemic autoimmune process (with high-titer ANAs and lymphopenia) and unknown antineuronal antibodies. The case report illustrates that a depressive syndrome suggestive of primary idiopathic depressive disorder may be associated with an autoimmune brain involvement. The detection of such organic affective disorders is of high clinical relevance for affected patients, as it enables alternative and more causal treatment approaches.
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
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