Scientific Open-access Literature Archive and Repository
Not a member yet
16397 research outputs found
Sort by
Eosinophilic Granuloma: A Rare and Often Benign Condition Presenting as a Lump on the Head, which was Easily Treated
Get PDFEosinophilic granuloma is a localized, non-invasive form of Langerhans cell histiocytosis. It usually develops in the long bones and is more frequent in children under the age of 10 years. It is very rare in adults. We present the case of a young woman admitted to hospital for persistent refractory left parietal headache, later revealed to be caused by an eosinophilic granuloma
Paraneoplastic Raynaud’s Phenomenon as an Initial Manifestation of Lung Cancer?
Get PDFParaneoplastic Raynaud’s phenomenon has often been reported in leukaemia, lymphoma and sarcoma. Nevertheless, an association with lung cancer is not frequently reported in the literature even though lung cancer is a common malignancy. We present a case of paraneoplastic Raynaud’s phenomenon as the presenting feature of underlying lung malignancy
Intestinal Spirochetosis in an HIV-positive Patient
Get PDFWe present the case of an HIV-positive patient admitted because of costal pain secondary to neoplasia. During investigations, a colonoscopy showed non-specific ulcerations. Histological examination resulted in a diagnosis of intestinal spirochetosis. This infection can be asymptomatic or cause non-specific symptoms such as diarrhoea or abdominal pain. Intestinal spirochetosis should be included in the differential diagnosis of colon lesions in patients with HIV infectio
Improved Walking Ability in Early Treatment with Nabiximols
Get PDFWe describe the case of a 46-year-old man with a 16-year history of relapsing- remitting multiple sclerosis, who, after a long period of clinical stability, manifested reduced walking ability and nocturnal painful spasm. Different therapeutic approaches were tried, such as baclofen and 4-aminopyridine, with an unsatisfactory response anda negative impact on the patient's quality of life. After introduction of nabiximols therapy, the patient showed improvement in walking with less fatigue in longer distances and a subsequent improvement in quality of lif
A Case of Severe COVID-19 in a Patient with Good's Syndrome
Get PDFGood’s syndrome is a rare adult-onset combined immunodeficiency. The association of hypogammaglobulinaemia with a history of recurrent infectious or autoimmune manifestations in a middle-aged patient with evidence of a mediastinal mass should lead to the clinical suspicion of Good’s syndrome. The mortality rate associated with infectious complications is high. Thus, although it is rare, the disease should be diagnosed early so that proper treatment can be started. Thymectomy and immunoglobulin replacement are the main therapeutic strategies. We describe the case of a patient with a history of thymoma and recurrent respiratory infections, with a late diagnosis of Good’s syndrome in the context of severe organizing pneumonia secondary to COVID-1
Skin Rash and Interstitial Pneumonia Can Be a Fatal Combination: A Rare Case of Anti-Melanoma Differentiation-Associated Gene 5 (MDA5)-Associated Interstitial Lung Disease
Get PDFWe report the case of a 62-year-old male patient fully vaccinated for COVID-19, admitted to our emergency room for persistent fever associated with exertional dyspnoea, skin lesions, diffuse myalgias and arthralgias not responsive to broad-spectrum antibiotic and antiviral therapy, who developed a rapidly progressive refractory to treatment interstitial lung disease due to anti-melanoma differentiation-associated gene 5 (MDA5) antibodies, that required mechanical ventilation and ECMO. Here, we highlight the importance of always considering alternative diagnoses, i.e. viral and autoimmune diseases, including anti-MDA5 antibody screening, when dealing with patients with a skin rash, seronegative polyarthralgias and interstitial pneumonia, or acute respiratory distress syndrome of unknown origin
Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences
Get PDFObjective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.Methods: A 36-year-old male (birth sex: female) presenting with bilateral PEs in the setting of long-standing, untreated classic 21OH CAH was also found to have bilateral adrenal masses (unconfirmed myelolipomas).Results: Further history revealed a known diagnosis of CAH. The patient had been treated with glucocorticoid and mineralocorticoid replacement in childhood but stopped taking these medications against medical advice. During his hospital admission, he was noted to have elevated 17-hydroxyprogesterone, low cortisol with elevated ACTH levels, and male-level testosterone measurements. CT of the abdomen/pelvis revealed a 23 cm mass in the left renal fossa and a 2.5 cm mass in the right renal fossa consistent with bilateral adrenal myelolipomas. The patient attended follow-up in clinic, but declined any further hormonal treatment as he identified as male and felt further treatment was unnecessary.Conclusion: This case demonstrated the unique long-term effects of untreated classic CAH due to 21OH deficiency, including bilateral adrenal myelolipoma, adrenal compensation to the point of producing male-level androgens, and possibly PEs. Treatment with hydrocortisone was recommended to suppress ACTH and it was planned that the patient would eventually start on testosterone (although this would have been complicated by his bilateral PEs). Potential aetiologies for the PEs included vascular compression of the renal artery (which could explain the elevated EPO/erythrocytosis contributing to hypercoagulability) or the renal vein by the adrenal mass
Mycobacterium chelonae Cutaneous Infection: A Challenge for an Internist
Get PDFCutaneous infections caused by the Mycobacterium chelonae complex show a heterogeneous clinical presentation, which varies according to the patient’s immune status. Most standard antimycobacterials have no effect against these species. Clarithromycin alone was shown to provide adequate treatment, although resistance has been reported. Consequently, the literature supports multi-drug therapy to combat resistant strains. Here, we describe the case of a 59-year-old man under systemic immunosuppressive therapy who developed cutaneous lesions whose evolution was highly suggestive of atypical infection
A Rare Case of Extra-Gonadal Oestrogen-Secreting Choriocarcinoma in a Male
Get PDFThis report describes a rare case of an extra-gonadal oestrogen-secreting tumour in a male patient. An otherwise healthy 60-year-old man presented to our hospital with a 3-month history of shortness of breath and weight loss. Blood panels and histology supported the diagnosis of an oestrogen-secreting choriocarcinoma. Unfortunately, the patient died soon after his diagnosis. The highlighting features of this case are: (1) the difficulty of confirming a diagnosis in a rapidly deteriorating patient; (2) the rarity of oestrogen-secreting extra-gonadal tumours in males; and (3) the aggressive rate of tumour progression seen on sequential imaging
Applications of Bayesian framework to optimal observational design strategies
No full textThis paper is focused on the optimization of ESPRESSO Radial Velocity follow-up of transiting exoplanets detected by the satellite TESS. We compare three different types of batch scheduling: one random scheduler and two types of uniform-in-phase schedulers: one myopic, which selects targets one-at-a-time, and one non-myopic that efficaciously explores all the possible combinations between stars to be observed and available time slots