No abstract available.
Aortic Valve Stenosis ; Natural History

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant hereditary disorder caused by germline mutation of the MEN1 gene. It is characterized by tumors of the anterior pituitary gland, parathyroid glands, and endocrine pancreas. Thymic carcinoid tumor is uncommon and associated with a high mortality, but its natural history has not been investigated yet. We report a case of asymptomatic MEN 1 with a thymic carcinoid tumor. A 37-year-old man underwent a routine medical checkup and upper gastrointestinal endoscopy revealed a duodenal neuroendocrine tumor (NET). Further studies showed the coexistence of pancreatic tumor, parathyroid hyperplasia, pituitary adenoma, and thymoma. The patient underwent duodenal endoscopic mucosal resection, distal pancreatectomy, subtotal parathyroidectomy, and thymectomy. The pathological test revealed a duodenal NET, pancreatic NET, parathyroid hyperplasia, and thymic carcinoid tumor. He was treated for MEN 1. We report this asymptomatic case of MEN 1 with a literature review.
Adult ; Carcinoid Tumor ; Endoscopy, Gastrointestinal ; Germ-Line Mutation ; Humans ; Hyperparathyroidism ; Hyperplasia ; Islets of Langerhans ; Mortality ; Multiple Endocrine Neoplasia Type 1 ; Multiple Endocrine Neoplasia ; Natural History ; Neuroendocrine Tumors ; Pancreatectomy ; Parathyroid Glands ; Parathyroidectomy ; Pituitary Gland, Anterior ; Pituitary Neoplasms ; Thymectomy ; Thymoma

Kawasaki disease (KD) is a systemic vasculitis in infants and young children. However, its natural history has not been fully elucidated because the first case was reported in the late 1960s and patients who have recovered are just now entering middle age. Nevertheless, much evidence has raised concerns regarding the subclinical vascular changes that occur in post-KD patients. KD research has focused on coronary artery aneurysms because they are directly associated with fatality. However, aneurysms have been reported in other extracardiac muscular arteries and their fate seems to resemble that of coronary artery aneurysms. Arterial strokes in KD cases are rarely reported. Asymptomatic ischemic lesions were observed in a prospective study of brain vascular lesions in KD patients with coronary artery aneurysms. The findings of a study of single-photon emission computed tomography suggested that asymptomatic cerebral vasculitis is more common than we believed. Some authors assumed that the need to consider the possibility of brain vascular lesions in severe cases of KD regardless of presence or absence of neurological symptoms. These findings suggest that KD is related with cerebrovascular lesions in children and young adults. Considering the fatal consequences of cerebral vascular involvement in KD patients, increased attention is required. Here we review our understanding of brain vascular involvement in KD.
Aneurysm ; Arteries ; Brain ; Central Nervous System ; Child ; Coronary Vessels ; Humans ; Infant ; Middle Aged ; Mucocutaneous Lymph Node Syndrome ; Natural History ; Prospective Studies ; Stroke ; Systemic Vasculitis ; Tomography, Emission-Computed ; Vasculitis ; Vasculitis, Central Nervous System ; Young Adult

OBJECTIVE: To evaluate the natural course of coronary-to-pulmonary artery fistula (CPAF) detected on coronary computed tomography angiography (CCTA) and to propose potential treatment strategies. MATERIALS AND METHODS: In this retrospective multicenter study, we assessed the CCTA reports of 188 CPAF patients evaluated between March 2009 and June 2016. Fifty-seven patients were excluded because their follow-up (FU) periods were less than 2 years. Information regarding demographic characteristics, past history, treatment method, and the occurrence of major adverse cardiac events (MACE) during the FU period was collected. We analyzed the morphologic features of CPAF and the various factors associated with surgical treatment. Patients who had undergone FU CCTA after being diagnosed with CPAF were assessed for the presence of morphological changes on FU imaging. RESULTS: The median age of the study population was 63.0 years (range, 57.0–72.0 years), and the median FU period was 5.72 years (range, 4.08–6.96 years). The most common origin of the CPAF was both coronary arteries in 76 (58.0%) cases. An aneurysm or aneurysms was/were present in 41 (31.3%) cases. Fifty-four (41.2%) fistulas were less than 2 mm in size. Eight patients underwent surgery, and 123 (93.9%) patients received optimal medical treatment (OMT). The fistula size was significantly different between the two treatment groups (p = 0.013) and was the only factor associated with surgical treatment (odds ratio = 1.14, p = 0.021). Only one patient in the OMT group reported MACE during the FU period due to preexisting coronary artery disease. Twenty-nine patients (22.1%) underwent FU CCTA after CPAF diagnosis, with a median FU period of 3.81 years. None of the patients in the OMT group demonstrated morphological changes in the CPAF on FU imaging. CONCLUSION: Most CPAFs identified on CCTA have a favorable prognosis. Observation with OMT is usually an appropriate strategy. Fistula size is a possible determinant for surgical treatment.
Adult ; Aneurysm ; Angiography ; Arteries ; Coronary Artery Disease ; Coronary Vessels ; Diagnosis ; Fistula ; Follow-Up Studies ; Humans ; Methods ; Natural History ; Prognosis ; Pulmonary Artery ; Retrospective Studies ; Vascular Fistula

PURPOSE: Perianal adenocarcinoma arising from a chronic anorectal fistula is a rare condition for which the natural history and optimal management are not well established. For that reason, we conducted a retrospective analysis of 5 consecutive patients with a perianal adenocarcinoma arising from a chronic anorectal fistula managed at our institution from January 2014 to December 2015. METHODS: The patients were identified from a prospectively collected colorectal cancer database that included all patients managed for colorectal cancer at our institution. RESULTS: The median age at diagnosis was 64 years (range, 55–72 years). Magnetic resonance imaging (MRI) was the initial investigation for all patients and showed a hyperintense T2-weighted image. One patient underwent an abdominoperineal resection following neoadjuvant chemoradiotherapy and remained disease free during the 12-month follow-up. Three patients received neoadjuvant therapy with intent for surgery, but did not undergo surgery due to either worsening health or metastatic spread. One patient declined intervention. The median overall survival was 10.5 months (range, 2–19 months). CONCLUSION: A high index of suspicion is required to make a clinical diagnosis of an anal adenocarcinoma arising from a chronic fistula. Histologic diagnosis must be achieved to confirm the diagnosis. Multimodal therapy with neoadjuvant chemoradiotherapy followed by abdominoperineal resection is the treatment of choice.
Adenocarcinoma ; Asian Continental Ancestry Group ; Chemoradiotherapy ; Colorectal Neoplasms ; Diagnosis ; Fistula ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Natural History ; Neoadjuvant Therapy ; Prospective Studies ; Rectal Fistula ; Retrospective Studies

BACKGROUND: Epidemic thunderstorm asthma (ETSA) severely affected Melbourne, Australia in November 2016. There is scant literature on the natural history of individuals affected by ETSA. OBJECTIVE: A multicentre 12-month prospective observational study was conducted assessing symptomatology and behaviors of ETSA-affected individuals. METHODS: We used a structured phone questionnaire to assess asthma symptom frequency, inhaled preventer use, asthma action plan ownership and healthcare utilization over 12 months since the ETSA. Analysis of results included subgroup analyses of the “current,” “past,” “probable,“ and “no asthma” subgroups defined according to their original 2016 survey responses. RESULTS: Four hundred forty-two questionnaires were analyzed. Eighty percent of individuals reported ongoing asthma symptoms at follow-up, of which 28% were affected by asthma symptoms at least once a week. Risk of persistent asthma symptoms was significantly higher in those with prior asthma diagnosis, current asthma, and probable undiagnosed asthma (all p < 0.01). Of 442 respondents, 53% were prescribed inhaled preventers, of which 51% were adherent at least 5 days a week. Forty-two percent had a written asthma action plan and 16% had sought urgent medical attention for asthma in the preceding year. CONCLUSIONS: Following an episode of ETSA, patients experience a pivotal change in asthma trajectory with both loss of asthma control and persistence of de novo asthma. Suboptimal rates of inhaled preventer adherence and asthma action plan ownership may contribute to asthma exacerbation risk and susceptibility to future ETSA episodes. Longer-term follow-up is needed to determine the extent and severity of this apparent change.
Asthma ; Australia ; Delivery of Health Care ; Diagnosis ; Environmental Exposure ; Follow-Up Studies ; Humans ; Natural History ; Observational Study ; Ownership ; Prospective Studies ; Public Health ; Surveys and Questionnaires ; Weather

BACKGROUND: Immune thrombocytopenic purpura (ITP) in children less than one year of age is less well characterized compared to ITP in toddlers and school-age children. Since children of different ages may have differing clinical courses, better delineation of the natural history of ITP in infants is needed. METHODS: We retrospectively reviewed the admission records of 248 consecutive pediatric patients between 1 month and 15 years of age who were admitted and treated for acute ITP at Pusan National University Children's Hospital from 2009 through 2017. All patients less than 1 year of age were identified and enrolled in this study. We investigated their demographics, clinical features, laboratory examinations, response to treatment, and long-term outcomes and made a comparison to those of children aged 1 to 10 years of age. RESULTS: Ninety nine infants were identified. Male to female ratio was highest in infants and decreased with age. Seventy nine (79.8%) of the 99 infant were found to be under 6 months old. The median platelet counts at diagnosis was 6×10⁹/L. Minor bleeding (bleeding score 0–2) was significantly dominant in infant compared to older subjects. Eighty two (96.5%) out of 85 patients achieved complete remission after initial intravenous immunoglobulin (IVIG) treatment. The relapse rate after initial CR was significantly lower than older ages (P=0.003). The platelet count after IVIG treatment in infant showed more rapid response compared to older subjects (P=0.04). Follow up information at 12 months was available for 70 infants. Chronic ITP at 12 month was seen less frequently in infants than in children 1 to 10 years of age (1.4% vs. 20.2%, P<0.001). CONCLUSION: Infants with acute ITP respond more favorably to IVIG treatment and are less likely to develop chronic ITP compared to children 1 to 10 years of age.
Busan ; Child ; Demography ; Diagnosis ; Female ; Follow-Up Studies ; Hemorrhage ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Infant ; Male ; Natural History ; Platelet Count ; Purpura, Thrombocytopenic, Idiopathic ; Recurrence ; Retrospective Studies

OBJECTIVE: Pituitary adenomas (PAs) are often detected as incidental findings. However, the natural history remains unclear. The objective of this study was to evaluate the natural history and growth pattern of untreated PAs.METHODS: Between 2003 and 2014, 59 PAs were managed with clinico-radiological follow up for longer than 12 months without any kind of therapeutic intervention. Tumor volumes were calculated at initial and last follow-up visit, and tumor growth during the observation period was determined. Data were analyzed according to clinical and imaging characteristics.RESULTS: The mean initial and last tumor volume and diameter were 1.83±2.97 mL and 13.77±6.45 mm, 2.85±4.47 mL and 15.75±8.08 mm, respectively. The mean annual tumor growth rate was 0.33±0.68 mL/year during a mean observation period of 46.8±32.1 months. Sixteen (27%) PAs showed tumor growth. The initial tumor size (HR, 1.140; 95% confidence interval, 1.003–1.295; p=0.045) was the independent predictive factor that determined the tumor growth. Six patients (11%) of 56 conservatively managed non-symptomatic PAs underwent resection for aggravating visual symptoms with mean interval of 34.5 months from diagnosis. By Cox regression analysis, PAs of last longest diameter over 21.75 mm were a significant prognostic factor for eventual treatment.CONCLUSION: The initial tumor size of PAs was independently associated with the tumor growth. Six patients (11%) of conservatively managed PAs were likely to be treated eventually. PAs of last follow-up longest diameter over 21.75 mm were a significant prognostic factor for treatment. Further studies with a large series are required to determine treatment strategy.
Diagnosis ; Follow-Up Studies ; Humans ; Incidental Findings ; Natural History ; Pituitary Neoplasms ; Prognosis ; Tumor Burden

OBJECTIVE: To analyze the angiographic features and clinical course, including treatment outcomes and the natural course, of fusiform middle cerebral artery aneurysms (FMCAAs) according to their location, size, and configuration.METHODS: We reviewed the literature on adult cases of FMCAAs published from 1980 to 2018; from 25 papers, 112 FMCAA cases, for which the location, size, and configuration could be identified, were included in this study. Additionally, 33 FMCAA cases in our hospital were included, from which 16 were assigned to the observation group. Thus, a total of 145 adult FMCAA cases were included. We classified the FMCAAs according to their location (l-type 1, beginning from prebifurcation; l-type 2, beginning from bifurcation; l-type 3, beginning from postbifurcation), size (small, <10 mm; large, ≥10 mm; giant, ≥25 mm), and configuration (c-type 1, classic dissecting aneurysm; c-type 2, segmental ectasia; c-type 3, dolichoectatic dissecting aneurysm).RESULTS: The c-type 3 was more commonly diagnosed with ischemic symptoms (31.8%) than hemorrhage (13.6%), while 40.9% were found accidentally. In contrast, c-type 2 was more commonly diagnosed with hemorrhagic symptoms (14.9%) than ischemic symptoms (10.6%), and 72.3% were accidentally discovered. According to location, ischemic symptoms and hemorrhage were the most frequent symptoms in l-type 1 (28.6%) and l-type 3 (34.6%), respectively. Most of l-type 2 FMCAAs were found incidentally (68.4%). Based on the size of FMCAAs, only 11.1% of small aneurysms were found to be hemorrhagic, while 18.9% and 26.0% of large and giant aneurysms were hemorrhagic, respectively. Although four aneurysms of the 16 FMCAAs in the observation group increased in size and one aneurysm decreased in size during the observation period, no rupture was seen in any case and there were no significant predictors of aneurysm enlargement. Of 104 FMCAAs treated, 14 cases (13.5%) were aggravated than before surgery and all the aggravated cases were l-type 1.CONCLUSION: While ischemic symptoms occurred more frequently in l-type 1 and c-type 3, hemorrhagic rather than ischemic symptoms occurred more frequently in l-type 3 and c-type 2. In case of l-type 1 FMCAAs, more caution is required in determining the treatment due to the relatively high complication rate.
Adult ; Aneurysm ; Aneurysm, Dissecting ; Dilatation, Pathologic ; Hemorrhage ; Humans ; Intracranial Aneurysm ; Middle Cerebral Artery ; Natural History ; Rupture

This tutorial defines the concepts of disease progression in the context of clinical pharmacology. Disease progression describes the natural history of disease, such as pain, or biomarker of drug response, such as blood pressure. The action of a drug, such as inhibiting an enzyme or activating a receptor, leads to a change in disease status over time. Two main types of drug response can be defined based on the pattern of the time course of disease status. The most common is a symptomatic effect equivalent to a shift up or down of the natural history curve. Less common but quite clinically important is a disease-modifying effect equivalent to a change in the rate of disease progression.
Blood Pressure ; Disease Progression ; Natural History ; Pharmacology, Clinical