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Orthopaedics and musculoskeletal system
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
14.18. An 11-year-old boy has a 4-day history of increasing pain in the distal thigh with no history of injury. He is limping and the thigh is swollen, tender and warm. There is a small effusion in the knee joint, but gentle active movement of the knee is possible. Which of the following diagnoses is/are likely?Osteomyelitis of the distal femoral metaphysis.Septic arthritis of the knee.Osteogenic sarcoma of the distal femoral metaphysis.Juvenile rheumatoid arthritis.Cellulitis.
Abnormal Personality in Functional Somatic Syndromes
Published in Peter Manu, The Psychopathology of Functional Somatic Syndromes, 2020
Investigators from the Division of Child and Adolescent Psychiatry at the University of Utah, Salt Lake City, Utah, completed important work comparing the psychosocial dysfunction of chronic fatigue syndrome with that of juvenile rheumatoid arthritis and mood disorders (Gray et al., 2001). The 15 patients with chronic fatigue syndrome (seven males and eight females; mean age 15 years) were recruited from the pediatric infectious disease clinic and from pediatricians practicing in the community. The subjects met standard diagnostic criteria (Holmes et al., 1988), which required the exclusion of previously diagnosed mental illness. Fifteen patients with juvenile rheumatoid arthritis (one male and 14 females; mean age 13 years) were referred from the rheumatology outpatient clinic of a children’s hospital. They had no other significant medical problems and had never been diagnosed with a psychiatric disorder. The group of subjects with mood disorders (four males and 11 females; mean age 14 years) was recruited from the outpatient psychiatry clinic of the same institution. These patients had been diagnosed with major depression or dysthymia (American Psychiatric Association, 1987) after a procedure that included a computerized diagnostic interview (Shaffer et al., 1996) and an independent clinical review of the data. The structured diagnostic interview was conducted with the subject and his or her parents, and disagreements were resolved after a discussion with a child psychiatrist. None of these subjects had ever been admitted to a psychiatric ward and none had a history of mania or psychosis.
Ophthalmology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Chronic iritis:1 Chronic inflammation: a Juvenile rheumatoid arthritis (Still’s disease).2 Chronic infection: a TB.b Leprosy.
It starts from the womb: maximizing bone health
Published in Climacteric, 2022
R. F. Vasanwala, L. Gani, S. B. Ang
Rheumatological diseases such as juvenile idiopathic arthritis are one of the most common chronic diseases of childhood, with a prevalence of 1 per 1000 children. The older terms ‘juvenile rheumatoid arthritis’ and ‘juvenile chronic arthritis’ were replaced by the term ‘juvenile idiopathic arthritis’ by the International League of Associations for Rheumatology. Juvenile idiopathic arthritis now incorporates all of what was called juvenile rheumatoid arthritis in the past as well as other forms of ‘idiopathic’ arthritis in childhood [101]. In juvenile idiopathic arthritis, a multifactorial reduction in bone mineral accrual with impaired bone mass has been widely reported [102,103]. Chronic inflammation [124], delayed pubertal maturation, malnutrition [125], muscle weakness [126], limited physical activity and adverse effects of treatments such as corticosteroids negatively impact bone health in this population [103,127].
Heterozygous CTLA4 splice site mutation c.458-1G > C presenting with immunodeficiency and variable degree of immune dysregulation in three generation kindred of Caribbean descent
Published in Pediatric Hematology and Oncology, 2021
Upendra Mahat, Nila Mistry Ambani, Seth J. Rotz, Kadakkal Radhakrishnan
Patient II.3 is the maternal uncle of the proband. He is 43-year old, and was diagnosed with ALE at 28 years of age. Later, he was found to have chronic hypogammaglobinemia and was clinically diagnosed with common variable immunodeficiency. He developed AIHA at the age of 29 years. When he was 32-year old, he was found to have a right sided pulmonary nodule. In view of the increasing size of the nodule, the wedge resection was performed which confirmed the diagnosis of stage IV atypical marginal zone non-Hodgkin lymphoma. The in situ hybridization for EBV-encoded RNA (EBER) was negative. He was initially treated with six cycles of rituximab-CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) chemotherapy, following which he was found to have CNS involvement. He received high dose methotrexate together with two cycles of the DeAngelis regimen. Unfortunately, he had no response with continuous progression of the CNS disease. Subsequently, he received whole brain irradiation followed by seven cycles of temozolamide. Currently, the patient remains in complete remission with no evidence of relapse. As of now, he has no genetic testing performed. Patient II.5 is the maternal uncle of the proband, who had history of cataract at the age of 6 years. He also had history of multiple surgeries for glaucoma in his childhood. He was diagnosed with juvenile rheumatoid arthritis at the age of 9 months. Later, he developed ITP, AIHA, ALE, hypothyroidism, hypogonadism and insulin dependent DM.
Ocular Features in Chinese Patients with Blau Syndrome
Published in Ocular Immunology and Inflammation, 2020
Shijing Wu, Linqing Zhong, Zixi Sun, Tian Zhu, Hongmei Song, Ruifang Sui
On one hand, uveitis is not a rare disease and the diagnosis is not hard to make. Uveitis as one of the early manifestations of BS may be diagnosed when skin lesions or arthritis are not visible. Our patient (F7-II1) was misdiagnosed with Vogt-Koyanagi-Harada syndrome, even though she had phalangeal joint deformation. On the other hand, when the initial manifestation is arthritis without ocular symptoms or signs, and the skin lesions are not severe, it will be easy for patients to be diagnosed with juvenile rheumatoid arthritis (JRA). All of our patients had arthritis, and most of them had an initial diagnosis of JRA. A skin biopsy showing noncaseating granulomas containing epithelioid cells, multinucleated giant cells, and lymphoid cells is helpful for the differential diagnosis.20 IL-6 and TNF-α levels are often very high in the blood. Genetic testing for suspected cases may provide strong molecular evidence and is being applied clinically currently.