An atypical limping teenager.
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ABSTRACT:
SUBMITTER: Liegeois C
PROVIDER: S-EPMC4550926 | biostudies-other | 2015 Aug
REPOSITORIES: biostudies-other
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Project description: Not available
| S-EPMC8034987 | biostudies-literature
Project description:Background:Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency. It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways. Case Report. We report the first patient in Greece with IRAK-4 deficiency. From the age of 8 months, she presented with recurrent infections of the upper and lower respiratory tract and skin abscesses. For this, she had been repeatedly hospitalized and treated empirically with intravenous antibiotics. No severe viral, mycobacterial, or fungal infections were noted. Her immunological laboratory evaluation revealed low serum IgA and restored in subsequent measurements; normal IgG, IgM, and IgE; and normal serum IgG subclasses. Peripheral blood immunophenotyping by flow cytometry and dihydrorhodamine (DHR) test revealed normal counts. She was able to make functional antibodies against vaccine antigens, including tetanus and diphtheria. She was administered with empirical IgG substitution for 5 years until the age of 12 years, and she has never experienced invasive bacterial infections so far. DNA analysis revealed a heterozygous variant in the patient: c.823delT (p.S275fs ? 13 at protein level) in the IRAK4 gene. Conclusions:The importance of clinical suspicion is emphasized in order to confirm the diagnosis by IRAK4 gene sequencing and provide the appropriate treatment for this rare primary immunodeficiency, as soon as possible.
| S-EPMC7568159 | biostudies-literature
Project description:PurposeTeenage pregnancy remains a significant global public health concern worldwide. However, it presents a complex phenomenon in developed countries, carrying potential short- and long-term consequences for both mothers and children.MethodsThis mixed method study used data from the French cross-sectional study "Portraits of adolescents", which included 6000 girls aged between 13 and 17 years. The quantitative approach involved comparisons between a subgroup with an history of pregnancy and their peers, examining their lived-experience and mental health. The qualitative approach investigated the question "What does being a teenager mean for you?" specifically for the girls who reported an history of pregnancy.ResultsTeenage pregnancies presented elevated rates of mental health disorders, including dark thoughts, depression, self-harm, participating in dangerous games, attempting suicide and increased use of psychoactive substances. With limited support, in comparison to their peers. The qualitative approach revealed three major themes: "being in action", "a way of feeling", and "quality of relationship".ConclusionThis vulnerable subgroup of adolescents suggests the need for a coordinated multidisciplinary healthcare approach, given their limited parental and friend support, with a high risk of experiencing poor mental health. Additionally, these findings portray a "silent sufferer" population characterized by difficulties recognizing or managing emotions due to difficulties in expressing their emotional distress.
| S-EPMC11302457 | biostudies-literature
Project description:BackgroundCardiac fibroma is a rare primary benign tumour of the heart. It often causes arrhythmia, endangers the lives of patients, and has a worse prognosis than other benign tumours. We report a 14-year-old female patient with a right ventricular fibroma. Various preoperative imaging examinations showed that the lesion was benign, and postoperative pathology confirmed that the lesions were fibroma.Case summaryA 14-year-old female patient visited her doctor for more than 5 months because of a heart murmur. Echocardiography revealed a slightly hyperechoic mass in the right ventricle, and on myocardial perfusion contrast imaging, the lesion showed equal enhancement. And the lesion also showed enhancement on contrast-enhanced gated cardiac computed tomography (CT). Contrast-enhanced magnetic resonance imaging (MRI) of the heart revealed that the lesion was isointense on T1-weighted image (T1WI), and isointense to slightly hyperintense on T2-weighted image (T2WI). The lesion was significantly homogeneously enhanced on a delayed enhancement scan. A positron emission tomography-CT (PET-CT) with 18F-fluorodeoxyglucose (18F-FDG) demonstrated that the mass showed lower levels of 18F-FDG uptake. These features suggested this lesion was a benign lesion. The postoperative pathology suggested the lesion was a right ventricular fibroma. The patient was discharged 14 days after surgery and remains disease-free and asymptomatic 14 months after surgery.DiscussionCardiac fibromas are histologically benign, but they can cause obstruction and malignant arrhythmia. The gold standard for diagnosing fibroma is pathology. However, in the absence of pathology, it is necessary to use various imaging methods to evaluate the lesions to distinguish between benign and malignant tumours.
| S-EPMC9269673 | biostudies-literature
Project description:? Young women with hypercalcemic type small cell ovarian cancer face a poor prognosis. ? Tumors respond to multi-agent chemotherapy, although rapid recurrence is typical. ? Using updated immunohistochemical staining patterns, this tumor can be identified.
| S-EPMC3861231 | biostudies-literature
Project description:IntroductionSignet cell carcinoma (SRCC)of the rectum is a rare subtype of the rectum cancer which accounts for only 0.8% of colorectal cancer in adolescents and young adults (AYAs) which spread aggressively to other organs and peritoneum.Case presentationWe present a case of 15-year-old boy from rural area, presented with chronic diarrhea and per rectal bleeding for 3 months. The diagnosis was determined by colonoscope which revealed a fungating mass identified at 10cm from anal verge. Histological examination confirmed diagnosis of signet ring cell adenocarcinoma. CT scan of the abdomen showed thickening involving the recto-sigmoid colon and rectal mass, without evidence of distant metastatic disease. The patient's carcinoembryonic antigen level was within the normal range. He underwent a colostomy and was subjected to neoadjuvant CCRT and surgery.DiscussionThis CASE highlights the importance and challenges in achieving early diagnosis and surgical intervention of signet-ring cell carcinoma in adolescents, as most cases are detected at an advanced stage coupled with the scarcity of information on these rarer subtypes which leads to a poor prognosis.ConclusionIn managing Signet cell carcinoma of the colorectal, physician have to know that it has a poor prognosis in patients of any age. However, in young teenagers delayed diagnosis and treatment option are narrowed to palliative management. Genetic profiling of family members and similar environment population may be a key to early detection.
| S-EPMC8111589 | biostudies-literature
Project description:Key clinical messageSickle cell disease (SCD) rarely presents with acute soft head syndrome (ASHS) often posing a diagnostic dilemma. Recovery is typically spontaneous, however, in the context of lack of awareness and limited brain imaging it could potentially lead to poor outcome.AbstractASHS is a rare complication of SCD, invariably occurring near puberty with hitherto elusive pathogenic mechanisms. ASHS often resolves spontaneously on conservative management, however, lack of awareness in the context of limited access to brain imaging could pose diagnostic challenges resulting in inappropriate management and untoward outcome. We present a case of a teenager who presented with subtle symptoms for which the diagnosis of sickle cell anemia (SCA) was delayed until he developed ASHS. LTM was a 16 years old boy with a history of recurrent joints pain since the age of 6 years, with a family history of SCA, but had initial negative sickling test. He presented with episodes of multiple joints pain, unprovoked scalp and left orbital swelling, low-grade fever and mild headache without any evidence for bleeding diathesis. The diagnosis of SCA was confirmed by hemoglobin electrophoresis. Computed tomography (CT) scan of the head revealed subgaleal heamatoma (SGH) and intraorbital haematoma without intracranial hemorrhage (ICH). He was managed conservatively with analgesics and hydration together with antibiotics for associated sepsis with complete resolution of clinical symptoms within 2 weeks. This case represents a rare scenario for a relatively mild SCA phenotype presenting with ASHS whose diagnosis poses an enigma in the resource-limited contex. It is therefore, prudent to recognize ASHS to avoid judicious interventions which could potentially result in untoward clinical outcome.
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Project description:We report a case of pulmonary thrombosis in a teenager during a hypercoagulable state associated with COVID-19 (coronavirus disease 2019) caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2). A condition rare in children and adolescents, pulmonary thrombosis underdiagnosis likely increases morbidity and mortality. A pulmonary thrombosis diagnosis requires a high level of suspicion and relies on the combination of clinical presentation, D-dimer elevation, and computed tomography (CT) pulmonary angiography or ventilation/perfusion scans, imaging techniques that are difficult to perform. Electrical impedance tomography (EIT) has gained attention, as it provides real-time ventilation distribution analysis. In addition, lung pulsatility images can be obtained through this technique using electrocardiogram gating to filter out ventilation. In this case report, the reduced EIT pulsatility corresponded to the perfusion defect found on the CT scan, information that was obtained at the bedside without radiation or contrast exposure.
| S-EPMC8460319 | biostudies-literature
Project description:The authors describe the case of a 16-year-old male who was incidentally found to have a blood pressure of 200/? mmHg 6 months previously due to blurred vision and was diagnosed with "high risk of hypertension grade 3, renal insufficiency, hypertensive encephalopathy, hypertensive heart disease, and fundus hemorrhage" after relevant examinations were performed. His blood pressure fluctuated around 120/90 mmHg after beginning antihypertensive treatment. While the diagnostic work-up of his hypertension was inconclusive, he had severe hypertension with brachydactyly type E and short stature on physical examination. The patient's cardiac damage and renal insufficiency ultimately returned to normal after strict blood pressure control, suggesting that hypertension and brachydactyly syndrome alone do not cause cardiac and renal damage.
| S-EPMC10918729 | biostudies-literature
Project description:Left ventricular clefts (LVCs) are defined as deep, tight blood-filled invaginations within the ventricular myocardium localized predominantly in the basal posterior septum and LV-free wall. Usually, they are asymptomatic and incidentally discovered during diagnostic imaging procedures. LVC has been reported both in healthy volunteers and in patients affected with hypertrophic cardiomyopathy. Clinicians should be able to recognize LVC and to distinguish this entity from other myocardial wall defects with different pathological profile and clinical significance. We describe a case of multimodality imaging of multiple septal myocardial clefts in an asymptomatic teenager.
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