Publications by authors named "Bryan Josue Flores-Robles"

Article Synopsis
  • Next-generation sequencing (NGS) is crucial for identifying genetic variants that cause diseases, but it's often too expensive for widespread clinical use; a cheaper alternative, extremely low coverage whole-genome sequencing (XLC-WGS), was explored in a study on retinitis pigmentosa (RP).
  • The study analyzed the genomes of 17 family members, including three diagnosed with RP, using Illumina's processing tools to filter and prioritize genetic variants.
  • Researchers identified a known mutation in the RP1 gene as the likely cause of RP in the affected individuals, demonstrating that combining pedigree analysis with XLC-WGS is a practical and cost-effective method to find genetic variants related to diseases.
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Article Synopsis
  • - Hypothenar hammer syndrome is a rare condition caused by repetitive trauma to the hypothenar region of the hand, leading to vascular insufficiency.
  • - Symptoms include cold intolerance, pain, paleness, and abnormal sensations (paresthesia) due to reduced blood flow (digital ischemia), which varies based on the ulnar artery blockage.
  • - A 63-year-old man with bilateral Raynaud's phenomenon was treated with successful vascular repair surgery, highlighting the importance of recognizing hypothenar hammer syndrome as a reversible cause of Raynaud's symptoms.
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  • The study examines the rare occurrence of patients diagnosed with both rheumatoid arthritis (RA) and ankylosing spondylitis (AS), highlighting characteristics and clinical implications.
  • It analyzed data from 81 patients, noting that the majority were men with a mean age of 53, and found significant symptoms including rheumatoid nodules and inflammatory lumbar pain.
  • The findings suggest that patients with both conditions show more severe radiological patterns and higher rates of rheumatoid factor (RF) and HLA B-27 positivity compared to those with only one of the diseases, indicating a need for further research into this association.
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Objective: The aim of this study was to compare the functional results of 2 different procedure types, medical or surgical used in treating native joint septic arthritis.

Methods: In this cohort study, we reviewed the clinical registries of patients admitted to a single third-level hospital with the diagnosis of septic arthritis during the period of January 1, 2008, to January 31, 2016.

Results: A total of 63 cases of septic arthritis were identified in which the initial approach for 49 patients was medical (arthrocentesis), whereas the initial approach for 14 patients was surgical (arthroscopy or arthrotomy).

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The study aimed to describe the effectiveness of switching the anti-TNFα agent when an acceptable clinical response has not been obtained with the first anti-TNFα agent in patients with uveitis in VKH syndrome. Patients diagnosed with VKH syndrome being evaluated from the uveitis unit of a single tertiary hospital from January 1, 2000, to October 30, 2015. Patients who presented uveitis with an inadequate response to a first anti-TNFα and required switching to a second anti-TNFα were selected.

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Primary bone marrow edema syndrome (BMES) is characterized by the combination of joint pain and distinctive magnetic resonance imaging changes. It has been suggested that the use of bisphosphonate drugs reduce symptom severity. Our objective was to review cases of patients diagnosed with BMES in the last 7 years who had been treated with zoledronic acid.

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Background: Sialodochitis fibrinosa is a rare disease which is characterized by recurring episodes of pain and swelling of the salivary glands due to the formation of mucofibrinous plugs. Analytic studies ascertain elevated levels of eosinophils and immunoglobulin E (IgE). Imaging studies such as magnetic resonance imaging (MRI) and sialography reveal dilation of the main salivary duct (duct ectasia).

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Pulmonary involvement in the form of acute pneumonitis in adult-onset Still's disease (AOSD) is an uncommon manifestation, with few cases reported in the literature. We report the case of a 61-year-old male with 3 years of AOSD evolution, treated with methotrexate (MTX) and half-dose corticosteroids, which debuted with symptoms of fever, dyspnea and dry cough after 3 weeks of receiving the first dose of tocilizumab (TCZ). In the follow-up study showed leukocytosis with left shift, elevated serum ferritin and C-reactive protein standard.

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The association of dermatomyositis with myasthenia gravis (MG) is uncommon, having been reported so far in only 26 cases. We report the case of a 69 year-old man diagnosed with MG two years ago and currently treated with piridostigmyne. The patient developed acute proximal weakness, shoulder pain and elevated creatine-kinase (CK).

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The prevalence of vitamin D deficiency and insufficiency among patients with systemic lupus erythematosus is high. This is likely due to photoprotection measures in addition to intrinsic factors of the disease. Low levels of vitamin D increase the risk of low bone mineral density and fracture.

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A 67-year-old woman with a history of hypertension and type 2 diabetes mellitus was admitted to the hospital due to aphasia and left-sided hemiparesis during the past 5 h with resolution of symptoms within 24 h. On admission laboratory analysis showed haemoglobin 19.2 g/dL and haematocrit 55.

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Cutis verticis gyrata is a descriptive term for a condition of the scalp consisting of deep grooves and convolutions that resemble the surface of the brain. We present a case of a 22-year-old man who presented with pain and swelling of both knees and hands. Enlarged wrists, ankles and feet were also noted, along with facial seborrhoea, thickening of the skin and deformity of the fingers.

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