Browsing by Issue Date, starting with "2020-09"
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- Acute abdominal pain in a 13-year-old female adolescentPublication . Monteiro Cunha, Sara; Leite, Sara; Vasconcelos, Sofia; Meireles, Carla; Gonzaga, Luís; São Simão, TeresaIntroduction: Ovarian torsion can occur at any pediatric age, mainly between the ages of 9 and 14 years. Diagnosis is challenging, as symptoms are nonspecific, misleading to other more common diagnoses, as genitourinary and gastrointestinal disorders. In children, ovarian lesions leading to torsion are typically benign and cystic. Surgical approach is safe, as most cases of early torsed ovary untwisting exhibit later normal ovarian function. Case report: A 13-year-old female adolescent was referred to the Emergency Department for vomiting, left low back pain, and diffuse abdominal pain with irradiation to the hypogastric area, associated with urinary symptoms. Abdomen was tender in the right iliac fossa and hypogastric area. Analytical study revealed increased inflammatory parameters, urinary test strip was negative, and pelvic computed tomography showed a cystic lesion of ovarian origin. Due to suspicion of cyst torsion, laparoscopic surgery was performed, revealing a necrotic adnexal torsion requiring adnexectomy. Discussion: Although often suspected, adnexal torsion is rarely confirmed. Although ovarian torsion accounts for a small number of all gynecological emergencies, it represents a common diagnostic challenge in the emergency setting. Conclusion: As ovary viability depends on early diagnosis, a high index of suspicion is required. This clinical case raises awareness of this entity in the differential diagnosis of lower abdominal pain in female children and adolescents.
- Infectious disease clinical casePublication . Lachado, Ana; Fernandes, Alexandre; Teixeira, Carla; Marques, Laura; Milheiro Silva, Tiago
- Imaging clinical casePublication . Gonçalo, Ana Lia; Almeida, Rui; Pereira, MarcoCase report: The authors present the case of a 15-year-old adolescent boy with occipital spur noticed since the previous year and with progressive enlargement. No history of trauma or other associated symptoms was evident. Physical examination showed a hard tumefaction with no inflammatory signs and x-ray revealed occipital hyperostosis. The boy spent most free time playing with mobile gadgets, with poor body posture. Discussion/Conclusion: Although considered a normal feature, occipital spur in adolescents and young adults may be linked to poor posture, for instance associated with prolonged use of handheld technology. Exaggerated technology use may be associated with several complaints and musculoskeletal symptoms should not be neglected.
- Quality of life of adolescents with type 1 diabetes mellitusPublication . Vasconcelos, Sofia; Monteiro Cunha, Sara; Rebelo, Alícia; Ferreira, Carla; Meireles, Carla; Dias, ÂngelaIntroduction: Type 1 diabetes mellitus is one of the most common endocrine-metabolic disorders of childhood and adolescence and requires a continuous and rigorous therapeutic approach, with recognized impact on children and adolescents’ quality of life. The purpose of this study was to evaluate the quality of life of adolescents with type 1 diabetes mellitus and its relationship with clinical and laboratory aspects and lifestyle. Material and Methods: DQOL questionnaire was applied to type 1 diabetes mellitus adolescents managed at the Pediatric Diabetology consultation of a level II hospital for more than one year. Questionnaire has a global score between 36 and 180, with higher scores reflecting worse quality of life. Statistical analysis was performed in SPSS®. Results: Seventy-one percent (n=36) of adolescents responded to the survey, 55.6% of which male, with a median age of 15 years. Median DQOL global score was 66. Adolescents with good metabolic control had a median global score of 49, compared with 71 in adolescents with poor metabolic control (p=0.007). The median global score of self-perception of better health was 51 compared to 73 for self-perception of poorer health (p=0.007). Discussion: In general, adolescents in this study revealed a satisfactory quality of life. Adolescents with better metabolic control have a higher satisfaction and better quality of life. Adolescents with better self-perceived health have a better quality of life. Conclusion: Recognizing factors that affect quality of life of adolescents with type 1 diabetes mellitus is crucial to devise therapeutic strategies that meet their expectations, promoting treatment adherence and better metabolic control.
- Chronic spontaneous urticaria in pediatric agePublication . Machado Cunha, Inês; Rebelo Gomes, EvaIntroduction: Chronic spontaneous urticaria is characterized by emergence of pruritic maculopapular cutaneous lesions recurring for more than six weeks, without known triggering factor. Association with autoimmunity is sometimes present, with urticaria preceding the onset of autoimmune disease. Clinical case: A five-year-old female with a personal history of allergic asthma and family history of thyroid disease was referred to the Immunoallergology consultation for cutaneous complaints compatible with urticaria with more than three years of evolution. Inducible urticaria forms were excluded. Analytical study revealed positive antinuclear antibodies with a 1/320 titer and positive basophil activation test after stimulation with autologous serum. Control of cutaneous manifestations was achieved with full dose antihistaminic H1. Conclusion: Chronic spontaneous urticaria associated with autoimmunity is rare in children. Clinical follow-up should be maintained to evaluate disease control and enable early recognition of other autoimmunity manifestations.
- A temporary corneal ectasia following airbag traumaPublication . Marta, Ana; Abreu, Ana Carolina; Monteiro, Sílvia; Pinto, MariaPurpose: To report a case of a temporary corneal ectasia induced by airbag trauma. Observations: A patient who suffered a road traffic accident with deployment of the frontal airbag and presented a corneal ectasia in both eyes after 3 months, without changes in visual acuity. After 9 months, he presented a significantly improvement, achieving his basal parameters in pentacam. Conclusions and importance: This is a rare case of corneal ectasia induced by airbag trauma that spontaneously reverted and it can emphasize the viscoelastic properties of the human cornea.
- Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosisPublication . Obici, Laura; Berk, John L; González-Duarte, Alejandra; Coelho, Teresa; Gillmore, Julian; Schmidt, Hartmut H-J; Schilling, Matthias; Yamashita, Taro; Labeyrie, Céline; Brannagan, Thomas H; Ajroud-Driss, Senda; Gorevic, Peter; Kristen, Arnt V; Franklin, Jaclyn; Chen, Jihong; Sweetser, Marianne T; Wang, Jing Jing; Adams, DavidIntroduction: Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, fatal, multisystem disease leading to deteriorating quality of life (QOL). The impact of patisiran on QOL in patients with hATTR amyloidosis with polyneuropathy from the phase 3 APOLLO study (NCT01960348) is evaluated.Methods: Patients received either patisiran 0.3 mg/kg (n = 148) or placebo (n = 77) intravenously once every three weeks for 18 months. Multiple measures were used to assess varying aspects of QOL.Results: At 18 months, compared with placebo, patisiran improved Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) score; (least squares [LS] mean difference: -21.1; p = 1.10 × 10-10; improved across all domains), EuroQoL 5-dimensions 5-levels (LS mean difference: 0.2; p = 1.4 × 10-12), EuroQoL-visual analog scale (LS mean difference: 9.5; p=.0004), Rasch-built Overall Disability Scale (LS mean difference: 9.0; p = 4.07 × 10-16) and Composite Autonomic Symptom Score-31(COMPASS-31; LS mean difference: -7.5; p=.0008). Placebo-treated patients experienced rapid QOL deterioration; treatment effects for patisiran were observed as early as 9 months. At 18 months, patisiran improved Norfolk QOL-DN total score and three individual domains as well as COMPASS-31 total scores relative to baseline. Consistent benefits were also observed in the cardiac subpopulation.Conclusion: The benefits of patisiran across all QOL measures and the rapid deterioration observed with placebo, highlight the urgency in early treatment for patients with hATTR amyloidosis with polyneuropathy.
- Idiopathic spinal accessory nerve injuryPublication . Cubelo Pereira, Pedro; Bianchi de Aguiar, Benedita; Dantas, Duarte; Machado Vaz, InêsPalsy of the eleventh cranial nerve – or spinal accessory nerve (SAN) − is a rare cause of scapular winging, leading to painful upper extremity disability due to weakness and atrophy of the trapezius muscle. Most SAN injuries are iatrogenic, and no specific pediatric epidemiology is known. Herein is described the case of a 17-year-old adolescent referred to Physical and Rehabilitation Medicine consultation due to insidious right shoulder pain with two years of evolution. Shoulder pain combined with muscular atrophy is suggestive of nerve lesion. Electromyography is the gold standard exam and showed segmental demyelination and axonotmesis in this case. After evaluation, the patient underwent physiotherapy, with excellent results. In conclusion, SAN injury treatment can be conservative or surgical and physiotherapy is the basis of early treatment in most cases. Recovery can occur even after a significant period of time.
- Isolated myeloid sarcoma of the tibiaPublication . Serrado, Maria Ana; Proença, Ana Luísa; Alves, PedroMyeloid sarcoma is a rare tumor of immature myeloid cells in an extramedullary site which can be found in any part of the body. It may precede or concurrently occur with acute myeloid leukemia, chronic myeloid leukemia, or myeloproliferative disorders/myelodysplastic syndrome. Herein is reported the rare case of a child with myeloid sarcoma in the right tibia, without leukemic involvement at diagnosis. Diagnosis was challenging and several imaging modalities (radiography, computed tomography, magnetic resonance, bone scintigraphy, positron emitted tomography–computed tomography) were required. Additionally, three biopsies were necessary to make a definitive and conclusive diagnosis. With this case report, the authors intend to emphasize the need of considering myeloid sarcoma in the differential diagnosis of lytic bone lesions in children and highlight the high degree of clinical suspicion required when there is no leukemia evidence.
- Inherited metabolic disorders: A century of evolutionPublication . Martins, Esmeralda
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