Zobrazení zdroje stránky Rosalesvaughn3306

Scurvy is a disease caused by chronic vitamin C deficiency. The greater prevalence was found in the paediatric population with neurodevelopmental disorders such as autism spectrum disorders due to their restricted dietary intake. Our case reported a child with autism who presented with arthralgia and anaemia. Systemic lupus erythematosus was the first diagnostic impression, resulting in over investigation and delayed diagnosis of vitamin C deficiency. After the child was treated with ascorbic acid, the child's symptoms resolved. This case highlighted the importance of developmental and nutritional history taking in the paediatric population. Furthermore, parents and physicians should be concerned about nutritional status, especially in children with restrictive dietary intake.Acquired haemophilia A (AHA) is a rare and possibly fatal autoimmune disorder that is challenging to treat. Although a majority of cases are idiopathic, AHA can also be associated with an underlying malignancy, autoimmune disorder, pregnancy, infection or certain medications. The diagnosis and treatment of AHA require a specialist with both clinical and laboratory expertise. The goal of treatment is aimed at achieving haemostasis as well as eradicating factor inhibitors. We present a patient with AHA and life-threatening haemorrhage who was successfully treated with a combination of haemostatic agents and a triple-drug immunosuppressive regimen. In reviewing recent studies and published guidelines, we advocate that a newer agent, emicizumab, can potentially be incorporated into the treatment protocol for AHA given its promising performance in the realm of congenital haemophilia.A 74-year-old woman with a history of diastolic heart failure and refractory atrial fibrillation (AF) presented with unstable angina for coronary artery bypass grafting. Routine pathological analysis of tissue specimens obtained from the left atrial appendage revealed subendocardial and interstitial fibrosis and patchy amyloid deposits with Congo red staining demonstrating filamentous deposits. Mass spectrometry was consistent with isolated atrial amyloidosis (IAA). IAA in this patient was found incidentally on routine postoperative pathology, but likely contributed to significant morbidity. The established relationship between IAA with AF and diastolic heart failure underscores the relevance. Further delineating the pathogenesis has potentially immense implications for the future management of associated conditions. To bridge the gaps in the understanding, a standardised approach to diagnosis is needed to open the door to a large-scale study and further work toward establishing evidence-based management pathways.A 40-year-old man developed granulomatosis with polyangiitis (GPA) following a mild case of COVID-19. Initially, he experienced mild migrating joint pain for 2 months prior to testing positive for SARS-CoV-2 but dramatically worsened following resolution of his infection. The pain continued to progress until he suddenly develope haemoptysis, prompting him to present to a local hospital. The diagnosis of diffuse alveolar haemorrhage secondary to GPA was confirmed with labs, imaging and histopathology. Precipitous deterioration of GPA with concurrent COVID-19 infection indicates a possible temporal relationship. Since the onset of the pandemic, SARS-CoV-2 has been anecdotally associated with the development of various connective tissue disorders. The overlapping clinical presentations and similar appearance on lung imaging present clinicians with a diagnostic challenge. This underscores the importance of having a high index of suspicion of autoimmune diagnoses in patients who present with new or worsening findings following a COVID-19 infection.Young patients presenting with cryptogenic stroke should be investigated for cardiac and extra-cardiac sources of emboli. We present a patient who was investigated for a cardiac source of emboli, following multiple ischaemic strokes and migraine with aura over a period of 17 years. The events were initially thought to be related to a patent foramen ovale (PFO) on bubble contrast echocardiography, however, due to an unusual flow pattern to the left heart, she underwent a CT angiogram to exclude intrapulmonary shunting. This confirmed the presence of a moderate sized congenital pulmonary arteriovenous fistula in the left lung. Transcatheter occlusion of the vascular malformation has resolution of her symptoms. Bubble contrast echocardiography is routinely used to diagnose a PFO in these cases, but extreme caution is required during the procedure to differentiate the pattern of flow seen in patients with a pulmonary arteriovenous malformation.Gestational choriocarcinoma is a malignant tumour originating from the trophoblastic tissue that can arise during or after any type of pregnancy, but most of the time follows a molar pregnancy. Characteristic for this tumour is its rapid haematogenous spread to various organs, causing atypical presentations often attributable to metastatic disease. We review three cases that occurred during and shortly after a coexistent intrauterine pregnancy. The patient of Case 1 presented with neurological symptoms due to hypercalcaemia, in Case 2 there was initially suspicion of appendicitis and the third patient presented with acute respiratory insufficiency. This case series illustrates that, although highly effective chemotherapy is available, choriocarcinoma can be life-threatening and accurate diagnosis is challenging but critical.In this report, we describe a patient who developed an acute trigeminal neuritis and cervical radiculitis after receiving a Pfizer-BioNtech vaccination (tozinameran) against SARS-CoV-2.Gestational trophoblastic disease occurs in 1-31000 gestations worldwide. Up to one-fifth of complete hydatidiform moles undergo malignant transformation, with 2%-4% manifesting as metastatic disease. Of these, a third present with vaginal metastases, which can cause bleeding and discharge. We describe the case of a 49-year-old primiparous woman presenting with syncope and intense bleeding from an anterior vaginal lesion, 3 weeks after uterine evacuation for a presumed spontaneous abortion. A vaginal metastatic nodule was suspected; haemostasis was achieved with vaginal packing, precluding the need for surgical intervention. The patient was ultimately diagnosed with invasive mole with vaginal and lung metastases (stage III high-risk gestational trophoblastic neoplasia (GTN)) and started on multiple-agent chemotherapy. Two months later the lesion had regressed completely, and remission was reached 2 weeks later. Clinicians should consider the possibility of metastatic GTN with vaginal involvement whenever heavy vaginal bleeding follows a recent history of failed pregnancy.Most previous studies on palliative rehabilitation highlight medical care, with occupational therapy (OT) primarily focused on normal and instrumental activities of daily living. This clinical report describes the case of a 35-year-old patient with prostate sarcoma with a poor prognosis who received OT to help him focus on participating in a meaningful occupation. Initially, the patient was depressed and withdrawn, but with OT, he was able to participate in an occupation, and his life became more active. Although the patient was at the end of his life, he was able to maintain a high quality of life during the limited time period.Abiotrophia defectiva is a nutritional variant streptococcus, with affinity for endovascular structures that cannot be cultured on non-supplemented media, leading to a delay in diagnosis. This case describes a 36-year-old woman with a previously known bicuspid aortic valve that presented with asthenia, myalgias and anorexia with 2-month onset. On admission, we documented fever and a systolic murmur. Transthoracic echocardiography revealed an oscillating mass attached to the aortic valve. The patient was admitted with a possible diagnosis of infective endocarditis. Later, blood cultures were positive for A. defectiva Due to severe aortic regurgitation and congestive heart failure, she underwent surgical aortic valve replacement. After 6 weeks of antimicrobial therapy, the patient experienced full recovery. Despite of its rarity, A. defectiva endocarditis is associated with significant morbidity with mortality and physicians must have a high level of suspicion to ensure a prompt diagnosis and provide the appropriate treatment.The Chiari I malformation (CM-I) is characterised by overcrowding of the posterior fossa and descent of the cerebellar tonsils and is associated with syringomyelia. With the increasing availability of magnetic resonance imaging, CM-I is placing a growing burden on neurosurgical services. However, its natural history remains poorly understood, and the timing and nature of surgical intervention is controversial. We present a case of a significant, symptomatic CM-I with associated syrinx which underwent complete spontaneous resolution over a 4-year period. Spontaneous regression of Chiari malformation and syringomyelia is exceedingly rare; a literature review reveals 15 other cases and only one case which underwent complete resolution. The present case and literature review suggest a more benign natural history of CM-I and support a more conservative approach to its management. Further studies are required to determine whether any factors can predict resolution for certain patient cohorts.Robotic-assisted surgery for the management of hepatic echinococcosis was introduced in 2016. The advantage it offers over laparoscopy is less rigidity with the use of the 360° rotation of the Endo-Wrist technology, thus allowing the preservation of the integrity of the liver tissue. Herein, we report the first successful robotic resection of the left lobe of the liver for hydatid disease in the Middle East. Our patient is a 71-year-old man found to have a large left hepatic lobe hydatid disease on CT scan. The hydatid liver disease was resected completely with an operation time of 130 min and minimal intraoperative blood loss. Patient did well postoperatively and was discharged home on day 2. Our experience shows that robotic surgery for hydatid disease of the liver can be safely performed, with an excellent outcome to the patient. It also provides unique technical advantages in the field of minimal-invasive surgery.A 35-year-old woman with acquired partial lipodystrophy (PLD) and features of type 2 membranoproliferative glomerulonephritis (MPGN-II), presented with difficulty in her fine detailed vision over the past year. She had right amblyopia from a hypermetropic anisometropia with astigmatism, displaying a best-corrected visual acuity of 0.50 and 0.00 LogMAR, in the right and left eye, respectively. Funduscopy showed bilateral symmetrical drusenoid deposits most prominent in the temporal macula with clusters in the superior and inferior retina, outside the temporal vascular arcades. Multimodal retinal imaging was performed, which confirmed hyperautofluorescent drusen located between the retinal pigment epithelium and Bruch's membrane. Electroretinography showed bilateral mild peripheral macular dysfunction, but normal central macular function on the pattern electroretinogram. [https://www.selleckchem.com/products/ru-521.html this website] Both PLD and macular drusen, are rare as distinct disease entities, but an association does exist and may be linked to MPGN-II.