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Summary: A 44-year-old athletic man presented in 2009 with severe low back pain. Dual-energy x-ray absorptiometry revealed severe osteoporosis; serum testosterone was 189 ng/dL while serum estradiol (E2) measured by liquid chromatography/mass spectrometry was 8 pg/mL. DNA was extracted and sequenced from a blood sample from the patient since his maternal first cousin also had low bone mass and both patients were screened for aromatase dysfunction by PCR analysis for the CYP19A1 gene, which encodes aromatase. No known pathologic mutations were observed in the coding exons, but novel single nucleotide polymorphisms were detected both in the proband and in his cousin. Treatment with topical testosterone started in August 2010. Over the next 8 years, testosterone dosage was varied and switched from topical gel to injections and maintained on depo-injections of testosterone at about 60 mg once per week. Re-examination in March 2012 included a brain MRI to exclude pituitary lesions; hyperparathyroidism was ruled out (normal serum parathyroid hormone, calcium, and calcium to phosphorous ratio) and celiac disease was excluded (negative transglutaminase antibodies). Follow-up in October 2018 showed improved bone mineral density of the lumbar spine by 29% and of the left femoral hip by 15% compared to baseline measurements. This reveals the importance of measuring serum E2 for making the correct diagnosis, as well as for monitoring a therapeutic effect. Herein, we propose treatment of male osteoporosis where serum E2 levels are below about 20 pg/mL with testosterone to reverse osteoporosis. Learning points: Estrogen deficiency in the diagnosis of male idiopathic osteoporosis. Importance of serum estradiol in male osteoporosis. Role of polymorphisms in aromatase gene on bone health. Reversal of osteoporosis. Tailored testosterone treatment for bone health.
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Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies against coagulation factor VIII and characterized by spontaneous hemorrhage in patients with no previous family or personal history of bleeding. We report here a case of AHA that occurred in the Department of Medicina D'Urgenza in Sant'Andrea Hospital in a patient with previous diagnosis of NSLC. The aim of this article is to allow a more comprehensive knowledge of AHA that both for the rarity and the poor literature is underdiagnosed; for all these reasons, it is important that different specialists, like emergency specialists, experts in internal medicine, hematologists, and oncologists, acquire a more complete knowledge of the clinical and laboratory features of this disease, allowing an early diagnosis crucial for the evolution of the coagulopathy.
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BACKGROUND: Polypharmacy exposes patients with comorbidities (particularly elderly patients) to an increased risk of drug-specific adverse events and drug-drug interactions. These adverse events could be avoided with the use of a computerized prescription support system in the primary care setting. The INTERCheck® software is a prescription support system developed with the aim of balancing the risks and benefits of polytherapy and examining drug-drug interactions. OBJECTIVES: This observational study used the INTERCheck® software to evaluate the incidence of adverse events and of drug-drug interactions in outpatients and inpatients receiving multiple medications. METHODS: Patients were randomly enrolled from the outpatient department (n = 98) and internal medicine ward (n = 46) of S. Andrea Hospital of Rome. Polypharmacological treatment was analyzed using INTERCheck® software, and the prevalence of risk indicators and adverse events was compared between the two groups. RESULTS: Polypharmacy (use of five or more drugs) applied to all except three cases among outpatients and one case among inpatients. A significant positive correlation was found between the number of medications and the INTERCheck® score (ρ = 0.67; p < 0.000001), and a significant negative correlation was found between the drug-related anticholinergic burden and cognitive impairment (r = - 0.30 p = 0.01). Based on the INTERCheck® analysis, inpatients had a higher score for class D (contraindicated drug combination should be avoided) than did outpatients (p = 0.01). The potential class D drug-drug interactions were associated with adverse events that caused hospitalization (χ2 = 7.428, p = 0.01). CONCLUSIONS: INTERCheck® analysis indicated that inpatients had a high risk of drug-drug interactions and a high percentage of related adverse drug events. Further prospective studies are necessary to evaluate whether the INTERCheck® software may help reduce polypharmacy-related adverse events when used in a primary care setting and thus potentially avoid related hospitalization and severe complications such as physical and cognitive decline.
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Pheochromocytomas are catecholamine-producing neuroendocrine tumors arising from chromaffine cells derived from the embryonic neural crest. They occur in 0.1-5.7% of patients with neurofibromatosis type 1 (von Recklinghausen's disease). We report the case of an adrenal pheochromocytoma in a patient with neurofibromatosis type 1.
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Neoplasias de las Glándulas Suprarrenales/complicaciones , Hipertensión/etiología , Neurofibromatosis 1/complicaciones , Feocromocitoma/complicaciones , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/genética , Neoplasias de las Glándulas Suprarrenales/metabolismo , Neoplasias de las Glándulas Suprarrenales/cirugía , Adrenalectomía , Adulto , Catecolaminas/metabolismo , Humanos , Imagen por Resonancia Magnética , Masculino , Neurofibromatosis 1/diagnóstico , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Feocromocitoma/metabolismo , Feocromocitoma/cirugíaRESUMEN
In ochronotic patients, abnormalities in bone metabolism leading to increased bone loss have been reported. Therefore, we attempted antiresorptive therapy to (almost) partially reverse bone loss in four out of five osteopenic or osteoporotic ochronotic patients, two men and two women, aged 56-82 years. Each patient was treated with a 70-mg tablet of alendronate weekly and 1,000 mg/day of elemental calcium, such as gluconolactate or carbonate, throughout 24 months. Before starting therapy, and after 1 and 2 years of treatment, the bone mineral density (BMD) at the femoral subregions and at the lumbar spine was measured (in grams per square centimeter and as a T score) by dual energy X-ray absorptiometry. A 50-year-old osteopenic ochronotic man refusing the treatment underwent the same checks. The BMD was measured in all patients on the same densitometer by the same operator. The results showed a progressive decrease of the femoral subregion BMD measurements both in the bisphosphonate-treated patients and in the untreated patient. In particular, the percentage differences with respect to the basal values of the total femur BMD measurements ranged from -0.52 to -6.72% in the first year and from -5.29 to -9.05% in the second year. The lumbar spine BMD measurements provided spuriously overestimated results. Moreover, two treated patients and the untreated patient experienced fragility fractures of the femur. The study showed that osteoporosis and fragility fractures are prominent manifestations in the natural history of ochronosis. Matrix microdamage, osteocyte viability, and collagen cross-linking impairment, due to homogentisic acid and to its polymer, might be the processes involved. For this reason, the bisphosphonate therapy was ineffective.
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Alendronato/uso terapéutico , Conservadores de la Densidad Ósea/uso terapéutico , Ocronosis/tratamiento farmacológico , Osteoporosis/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Densidad Ósea/efectos de los fármacos , Femenino , Fémur/diagnóstico por imagen , Fémur/efectos de los fármacos , Humanos , Masculino , Persona de Mediana Edad , Ocronosis/complicaciones , Osteoporosis/diagnóstico por imagen , Osteoporosis/etiología , RadiografíaRESUMEN
The stress response during chronic conditions increases vulnerability to diseases through the activation of adaptive systems, in particular, the hypothalamus-pituitary-adrenal (HPA) axis. Dysregulation in HPA activity (central and peripheral) has been reported in chronic diseases, like metabolic syndrome, type-2 diabetes mellitus, atherosclerosis-related disease, essential hypertension, dementia, depression, particularly during comorbid conditions. Different targets of anti-glucocorticoid treatment have been proposed, acting at supra-hypothalamic, HPA axis, glucocorticoid receptor and post-receptor levels. The recent promising patents on the therapy against glucocorticoid-mediated damage will be presented and discussed.
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Glucocorticoides/antagonistas & inhibidores , Antagonistas de Hormonas/uso terapéutico , Sistema Hipotálamo-Hipofisario/efectos de los fármacos , Terapia Molecular Dirigida , Sistema Hipófiso-Suprarrenal/efectos de los fármacos , Estrés Psicológico/tratamiento farmacológico , Animales , Enfermedad Crónica , Glucocorticoides/fisiología , Antagonistas de Hormonas/farmacología , Humanos , Sistema Hipotálamo-Hipofisario/fisiopatología , Sistema Hipófiso-Suprarrenal/fisiopatología , Receptores de Glucocorticoides/antagonistas & inhibidores , Receptores de Glucocorticoides/fisiología , Estrés Psicológico/fisiopatologíaRESUMEN
Transient osteoporosis of the hip (TOH) is not an uncommon condition, usually with a benign course. The syndrome classically affects women during the last trimester of pregnancy, but also middle aged men. Recently, TOH has been described in non pregnant women. The pathophysiology of the disease is uncertain, though several hypotheses have been suggested. Joint pain is the main symptom. TOH is a self-limited condition, which resolves spontaneously with complete recovery within several months in most cases.
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Articulación de la Cadera/patología , Osteoporosis/patología , Adulto , Anciano , Médula Ósea/patología , Edema/patología , Femenino , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Osteoporosis/complicaciones , Osteoporosis/fisiopatología , Dolor/complicaciones , Dolor/patología , Dolor/fisiopatología , Embarazo , Complicaciones del Embarazo/etiología , Complicaciones del Embarazo/patología , Complicaciones del Embarazo/fisiopatología , Tercer Trimestre del Embarazo , Pronóstico , Radiografía , Remisión Espontánea , Adulto JovenRESUMEN
Spontaneous intracranial hypotension (SIH) is a rare syndrome defined by postural headache, associated with a low cerebrospinal fluid pressure, without history of previous dural trauma or invasive treatment on rachis. We reported a case of a patient with postural headache caused by SIH identified by magnetic resonance images and treated with saline solution infusion with complete remission of symptoms.