Objective Vertebral fracture (VF) and osteonecrosis of the femoral head (OFH) are serious concerns in patients with rheumatic diseases treated with high-dose glucocorticoids (GCs). We comparatively examined the risk factors of VF and OFH in patients who had recently received high-dose GC therapy. Patients and Methods Patients with rheumatic diseases receiving GCs (≥0.5 mg/kg/day for prednisolone equivalent) within the past 2 months were enrolled in this study, and treated with 200 mg/day of etidronate cyclically. The bone mineral density (BMD) of the lumbar spine (L2-4) was examined by QDR2000. OFH was evaluated by magnetic resonance imaging (MRI). [ClinicalTrials.gov identifier: NCT00679978]. Results Forty-four patients completed the 2-year study including annual X-rays and the BMD analysis. MRI evaluation at entry and 2 years was performed in 41 patients. The BMD values with anteroposterior (AP) and lateral views decreased by 6.4% and 9.7%, respectively, in the first year, but were stable in the second year. Eleven patients developed VF and 9 patients developed OFH. The risk factors for VF included previous VF and a low BMD value (T score<-1.5) of AP view at baseline with an odds ratio (OR) of 14.9 (95%CI 2.9-76.4), while the risk factor for OFH was a recent maximum GC dosage (>1.2 mg/kg/day versus≤; OR=7.7, 95%CI 1.3-45.5) and a decrease in BMD value of lateral view (>15% versus≤; OR=6.7, 95% CI 1.2-36.1) in the first year. Conclusion The development of VF relies on the predisposing factors, while that of OFH depends on the response to high-dose GC therapy.
Objective The current study was conducted to determine whether or not the lung is one of the target organs in the development of vascular complications in diabetic patients. We also investigated the relationship between pulmonary diffusing capacity and microalbuminuria. Materials and Methods A total of 68 patients with type 2 diabetes and 44 with type 1 diabetes (male/female [M/F] n=19/49 and 15/29; age: 52.4±8.8 and 32.5±11 years;) and 80 healthy controls (M/F=22/58; age=40.1±12.4 years) were recruited for the study. All of the participants were evaluated with simple spirometric tests and a simple breath carbon monoxide (CO) diffusion test. CO lung diffusion capacity (DLCO) and the ratio of DLCO value to the alveolar volume (VA) were used to assess alveolar membrane permeability (DLCO/VA). Urinary albumin excretion (UAE) per day of the participants was also evaluated. Results DLCO, DLCO% and DLCO/VA% values were significantly lower in diabetics than in the control group (p=0.006; p=0.039; p=0.003, respectively). UAE was inversely correlated with DLCO, DLCO/VA, DLCO/VA% and DLCO% (p=0.050; p=<0.001; p=0.001; p=0.004, respectively). Conclusion This study demonstrated that alveolar gas exchange capacity is significantly decreased in diabetic patients. Microalbuminuria may be one of the predictors of this decline.
A 49-year-old asthmatic woman with a history of drug allergy to aspirin and penicillin presented to the hospital with fever, dark urine, general exanthema and fatigue. Physical examination revealed jaundice. She had been taking four different over-the-counter drugs. Laboratory examination showed eosinophilia, elevated Ig E, hyperbilirubinemia and elevated liver function tests. HBs Ag, anti-HCV Ab and Ig M anti-HA were negative. She was initially diagnosed with drug-induced hepatitis and was treated with steroids. However, liver dysfunction with eosinophilia relapsed after discontinuing steroids. Liver biopsy revealed eosinophilic infiltration. Steroids were discontinued after the start of 6-mercaptopurine.
Among 15 patients with PTH-deficient idiopathic hypocalcemia, we found two novel missense mutations in the calcium-sensing receptor (CaSR). Patient 1, who developed severe hypocalcemia (5.0 mg/dL) and seizures after birth, had a heterozygous de novo missense mutation in the transmembrane domain (A844P). The patient is currently receiving a minimum dose of 1α-OHD3 (0.5 μg/day) to maintain the serum calcium level at 6 mg/dL and thus prevent seizures. Patient 2 had asymptomatic hypocalcemia (7.5 mg/dL) and also had a heterozygous missense mutation in the extracellular domain (E228G). These findings suggest that gene analysis of CaSR should be performed in patients with idiopathic hypocalcemia, particularly when it occurs in the neonatal period.
A 64-year-old woman had normal serum calcium and plasma parathyroid hormone levels, despite an extremely high plasma parathyroid hormone-related protein (PTHrP) level. She underwent medical screening at our hospital and several neck tumors were detected by ultrasonography. After surgical resection of these tumors, her plasma PTHrP level was normalized. Histological examination showed that the resected tumors were thyroid follicular adenomas, while immunohistochemistry revealed positive staining with a monoclonal antibody for PTHrP. This is a rare case of thyroid follicular adenoma producing PTHrP in a patient with a normal serum calcium level despite elevation of plasma PTHrP.
A woman with isolated ACTH deficiency and empty sella in a background of primary antiphospholipid syndrome (APS) is described. A 24-year-old woman was admitted for premature delivery at 30 weeks of gestation and was found to have severe pulmonary hypertension and right sided heart failure. A few hours after delivery, without excessive blood loss, she suddenly lost consciousness, and was found to be hypotensive and hypoglycemic. The findings on hormonal evaluation were consistent with isolated secondary adrenal insufficiency as both ACTH and cortisol levels were very low. Magnetic resonance imaging of the pituitary fossa showed an empty sella. Her severe cor pulmonale was found to be due to primary APS. The patient was given replacement of glucocorticoid and treated with frusemide, spironolactone, warfarin, sildenafil and inhaled iloprost for her pulmonary hypertension, after which her clinical status improved substantially. Follow-up tests of the hypothalamic—pituitary axis found normal serum LH, FSH, TSH, FT4 and prolactin secretion; serum ACTH and plasma cortisol levels remained low.
Idiopathic CD4+ T-lymphocytopenia (ICL) is a new disease entity characterized by CD4+ T-lymphocyte depletion without evidence of HIV infection. We report a 27-year-old ICL patient with a long history of multiple immune abnormalities. His CD4+ T-lymphocyte count started to decrease after generalized lymphadenopathy of an unknown cause at age 3. He satisfied the criteria for ICL at age 9, and the decreased CD4+ T-lymphocyte count persisted for more than 18 years. This is probably the first childhood-onset ICL case in which the trigger event for the development was known together with the patient's autoimmune background.
We describe a case of systemic mastocytosis associated with myelodysplastic syndrome. The bone marrow showed multifocal clusters of mast cells and myeloid dysplasia. Sequencing of the KIT DNA revealed a point mutation at codon 816 including a substitution of valine for aspartic acid (D816V). The patient's tumor did not respond to imatinib; however, interferon-alpha reduced the bone marrow mast cells and serum total tryptase. The patient remains alive at one year after the diagnosis without disease progression.
Transfusion-related acute lung injury (TRALI) is currently the leading cause of transfusion-related death. A 67-year-old man with severe aplastic anemia developed TRALI, consisting of acute respiratory insufficiency with severe hypoxia and diffuse pulmonary infiltration 2 hours after the transfusion of platelet concentrates. Although he required intensive respiratory support, he promptly recovered within 4 days. The presence of anti-HLA antibody (anti-HLA B52) in the donated blood product was demonstrated, and a lymphocytotoxicity test disclosed antibody-mediated cytotoxicity against the patient's cells. Furthermore, administration of granulocyte-colony stimulating factor was suggested to predispose the patient to TRALI by priming the neutrophils.
A 40-year-old woman was admitted to our hospital because of double vision combined with left ptosis. Although at 25 years of age she had already been diagnosed with limb weakness associated with chronic inflammatory demyelinating polyneuropathy (CIDP), she had never experienced double vision until her latest condition. Neurological examination revealed left oculomotor palsy without other cranial nerve involvement. Serial magnetic resonance imaging (MRI) studies demonstrated a temporal correlation between clinical severity of oculomotor palsy and segmental enhancement of the oculomotor nerve. Gadolinium enhancement on MRI may be a significant finding indicating relapse of oculomotor involvement of CIDP.
Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder occurring in approximately 1 out of every 400 to 1,000 live births. An extremely rare association between ADPKD and coronary aneurysms has been determined. No connection between this association and acute coronary syndromes has been identified; however, a few reports have appeared in the literature. We present and demonstrate the very rare association of ADPKD and coronary aneurysm, and briefly review this unusual relationship.
Graves' disease is generally seen in women between the ages of 20 and 50 years. Euthyroid Graves' opthalmopathy is seen in 3% of the patients and 10% of the cases are unilateral. Although optic neuropathy is rare and is seen at the later stages of the disease, it is a detrimental complication. Herein, we report a 43-year-old man with right-sided vision loss who was eventually diagnosed to have optic neuropathy as the initial manifestation of euthyroid Graves' disease. Graves' disease should be considered in the differential diagnosis of optic neuropathy of unknown origin.