Leading Presenting Symptom Research Articles

Presentation and management outcome of symptomatic epididymal cysts in children: A case series

IntroductionEpididymal cysts usually develop in adults with rare occurrence in children. There is a shortage concerning our knowledge about this rare pathology in children. We present our experience with the presentation and management outcome of symptomatic epididymal cysts in children. MethodsA retrospective analysis of 7 patients with symptomatic epididymal cysts during the period from October 2017 to June 2022 was conducted. Recorded data included age and mode of presentation, findings on physical examination and scrotal U/S, spontaneous resolution and its duration, indications of surgical intervention, and post management follow up. All patients underwent an initial plan of conservative management. Surgical intervention was indicated in patients with persisting symptoms and/or failure of lesion's resolution on periodic follow up of 3 months interval. ResultsThe average age of patients was 7.9 years. Scrotal pain was the leading presenting symptom in 4 (57.1%) patients. The diagnosis was confirmed in all patients by scrotal ultrasonography. Spontaneous resolution was reported in 5 (71.4%) patients with an average duration of 9 months. Surgical excision was indicated in 2 (28.6%) patients. Recurrence was not recorded in all patients who developed complete lesion's resolution, and patients were symptom free for 6 months of post management follow up. ConclusionThe majority of epididymal cysts in children can be managed conservatively. Resolution duration is directly proportional to the cyst size. Cysts larger than 10 mm less likely involute, and surgical excision may be indicated. Larger volume studies are needed to establish a more solid therapeutic regimen.

The characteristics and prognostic role of acute abdominal on-admission pain in acute pancreatitis: A prospective cohort analysis of 1432 cases.

IntroductionPain is the most common symptom in acute pancreatitis (AP) and is among the diagnostic criteria. Therefore, we aimed to characterize acute abdominal pain in AP.MethodsThe Hungarian Pancreatic Study Group prospectively collected multicentre clinical data on 1435 adult AP patients between 2012 and 2017. Pain was characterized by its intensity (mild or intense), duration prior to admission (hours), localization (nine regions of the abdomen) and type (sharp, dull or cramping).Results97.3% of patients (n = 1394) had pain on admission. Of the initial population with acute abdominal pain, 727 patients answered questions about pain intensity, 1148 about pain type, 1134 about pain localization and 1202 about pain duration. Pain was mostly intense (70%, n = 511/727), characterized by cramping (61%, n = 705/1148), mostly starting less than 24 h prior to admission (56.7%, n = 682/1202). Interestingly, 50.9% of the patients (n = 577/1134) had atypical pain, which means pain other than epigastric or belt‐like upper abdominal pain. We observed a higher proportion of peripancreatic fluid collection (19.5% vs. 11.0%; p = 0.009) and oedematous pancreas (8.4% vs. 3.1%; p = 0.016) with intense pain. Sharp pain was associated with AP severity (OR = 2.481 95% CI: 1.550–3.969) and increased mortality (OR = 2.263, 95% CI: 1.199–4.059) compared to other types. Longstanding pain (>72 h) on admission was not associated with outcomes. Pain characteristics showed little association with the patient's baseline characteristics.ConclusionA comprehensive patient interview should include questions about pain characteristics, including pain type. Patients with sharp and intense pain might need special monitoring and tailored pain management.SignificanceAcute abdominal pain is the leading presenting symptom in acute pancreatitis; however, we currently lack specific guidelines for pain assessment and management. In our cohort analysis, intense and sharp pain on admission was associated with higher odds for severe AP and several systemic and local complications. Therefore, a comprehensive patient interview should include questions about pain characteristics and patients with intense and sharp pain might need closer monitoring.

Clinical outcomes following definitive treatment of young-onset, locally advanced rectal cancer: A single institution experience.

e15601 Background: We evaluated demographic, treatment, and survival outcomes of adults age 18 to 49 years treated at our institution with long course chemoradiotherapy (CRT) followed by total mesorectal excision (TME) for locally advanced rectal cancer. Additionally, we compared outcomes between those age < 45 vs. > 45 years. Methods: The records of 219 patients diagnosed with non-metastatic, clinical T3, T4, or node positive rectal adenocarcinoma and treated between April 2000 and November 2017 were reviewed for age, sex, and presenting symptoms; clinical stage and microsatellite stable (MSS)/DNA mismatch repair (MMR) proficiency status; treatments delivered and sequence; pathologic response to pre-operative therapies; and the development of locoregional recurrence (LRR), distant metastasis (DM), and secondary pelvic malignancy. The Kaplan-Meier method and Log-Rank test were used to calculate and compare disease-free survival (DFS) and overall survival (OS) rates from the date of TME. Results: The median age at diagnosis was 44 years (range 19-49) and there was no sex predominance. Rectal bleeding was the most common presenting symptom (91%), with a median time to diagnosis of 5 months. Clinical tumor/nodal categories were T1-2 in 4%, T3 in 87%, T4 in 7%, N0 in 17%, and N1–2 in 80% of patients. MSS/MMR proficient disease was identified in 95% of tumors with status reported (n = 170). CRT followed by TME and post-operative chemotherapy was the most frequent treatment sequence (n = 196), with capecitabine (n = 176) and FOLFOX (n = 115) as the predominant concurrent and post-operative chemotherapies, respectively. Pathologic complete response at both primary and nodal sites occurred in 15% of all cases and 16% of MSS/MMR proficient cases. There was no difference in sex, tumor category, nodal category, MSS/MMR proficiency status, or pathologic complete response, by age ( < 45 years [n = 111] vs. > 45 years [n = 108]). At a median DFS follow-up time of 5.0 years, there were 11 LRR, 40 DM (including 11 DM detected prior to/at time of TME), and 1 synchronous presentation of LRR and DM. The 5-year rate of DFS was 70.4% for age < 45 years and 85.3% for age > 45 years ( P = 0.02). At an OS median follow-up time of 7.5 years, there were 38 deaths. The 5-year rate of OS was 87.7% for age < 45 years and 94.4% for age > 45 years ( P = 0.126). Two patients developed non-rectal pelvic malignancies. Conclusions: The outcomes reported here from one of the largest single-institution series for young-onset, locally advanced rectal cancer could serve as a benchmark to evaluate newer treatment approaches. Rectal bleeding was the leading presenting symptom, with approximately half-year delay from development of symptoms to diagnosis. Most tumors were MSS/MMR proficient. At 5 years’ follow-up time, the DFS rate was lower for patients age < 45 years when compared to those > 45 years. Secondary pelvic malignancies were a rare occurrence.

Prognostic factors for survival in patients with gastric adenocarcinoma.

BackgroundGastric cancer ranks as a leading cause of cancer deaths worldwide. Information of prognostic factors related to gastric cancer are limited.AimThis study aimed to gather clinical data and prevalence of prognostic factors related to gastric adenocarcinoma in Thailand.Methods and resultsThis retrospective cohort study was conducted at Thammasat University Hospital, Thailand between January 2010 and July 2018. Gastric adenocarcinoma patients were enrolled and followed up for at least 5 years. Total of 210 gastric tumor patients were enrolled. One hundred patients were diagnosed with gastric adenocarcinomas (57 men and 43 women, mean age = 61.1 years). The leading presenting symptoms were weight loss (65%), followed by dyspepsia (54%) and UGI bleeding. Common clinical manifestations were thrombocytosis (26%), followed by syndrome of inappropriate antidiuretic hormone (SIADH; 15%). Eosinophilia was present in early cancer (25.0% vs 6.5%, P = .123), while SIADH and thrombocytosis were more common in advanced stages (16.3% vs 0%, P = .602, and 28.3% vs 0%, P = .108, respectively). SIADH was significantly related to reduced 1‐year survival rate compared to normal serum sodium levels (21.4% vs 71.4%, OR 0.109, 95% CI 0.024‐0.497, P = .004). Five‐year survival rates were worse in patients with SIADH, but better in patients with eosinophilia compared to patients without these conditions (0% vs 27.8%, P = .058 and 20.0% vs 7.8%, P = .375, respectively).ConclusionThrombocytosis and SIADH were common in gastric cancer. SIADH was significantly correlated with poor 1‐year survival. These clinical manifestations might be useful for predicting gastric cancer prognosis.

Impact of evaluation in interventional radiology clinic prior to uterine artery embolization: changes in management.

To assess the impact of pre-procedural evaluation of patients with symptomatic uterine fibroids and adenomyosis in interventional radiology (IR) clinic. In this IRB-approved, HIPAA-compliant retrospective study, consecutive patients evaluated in the IR clinic in a tertiary academic hospital between 1/1/2015 and 9/30/2018 by a single board-certified interventional radiologist were included. Medical records were reviewed to obtain medical history, imaging and endometrial biopsies results. Impact of IR clinic assessment of clinical, imaging, and pathological findings on patient's clinical course was assessed. Descriptive statistics were used. 208 consecutive patients were evaluated in clinic for uterine fibroids 176/208 (85%), adenomyosis 8/208 (4%) or both 24/208 (11%) with age of 44.4 ± 5.8years and BMI of 30.1 ± 8.6kg/m2. Leading presenting symptom was menorrhagia in 172/208 (80%) patients, pelvic pain in 91/208 (44%), and urinary symptoms in 88/208 (42%) patients. 159/208 (76%) patients underwent UAE, 12/208 (6%) patients underwent surgery, and 37/208 (18%) patients chose conservative management. 189/208 (91%) patients had pelvic MRI that altered management course in 7/189 (4%) patients due to intracavitary fibroids in two patients, endometrial polyps in two patients, non-enhancing fibroids in two patients, and adnexal mass in one patient. 166/208 (80%) underwent endometrial biopsy that altered management course in one patient (0.6%) due to endometrial intraepithelial neoplasia. Endometrial biopsy and pelvic MRI are helpful to detect cases of non-enhancing fibroids, intracavitary fibroids, and ovarian and endometrial malignancies and thus altered management of five percent of patients with symptomatic fibroids and adenomyosis.

Improving timely analgesia administration for musculoskeletal pain in the emergency department

Delays to adequate analgesia result in worse patient care, decreased patient and provider satisfaction and increased patient complaints. The leading presenting symptom to emergency departments (EDs) is pain, with approximately...

A teljesexom-szekvenálás jelentősége a ritka neurológiai betegségek diagnosztikájában – saját tapasztalatok egy ataxiás eset kapcsán

Next generation sequencing (NGS) technologies reshape the diagnostics of rare neurological diseases. In the background of certain neurological symptoms, such as ataxia, many acquired and genetic causes may be present. Variations in a given gene can present with variable phenotypes, too. Because of this phenomenon, the conventional one gene sequencing approach often fails to identify the genetic background of a disease. Next generation sequencing panels allow to sequence 50-100 genes simultaneously, and if the disease stratification is not possible based on the clinical symptoms, whole exome sequencing can help in the diagnostic of genetic disorders with atypical presentation. This case study is about the exome sequencing of a patient with cerebellar ataxia. Genetic investigations identified rare variants in the SPG11 gene in association with the clinical phenotype, which gene was originally described in the background of hereditary spastic paraparesis. Our article highlights that in certain cases the variability of the leading presenting symptom makes it hard to select the correct gene panel. In our case the variants in the gene, formerly associated to hereditary spastic paraparesis, resulted in cerebellar ataxia initially, so even an ataxia NGS gene panel would not detect those. Orv Hetil. 2018; 159(28): 1163-1169.

Post-childhood Presentation and Diagnosis of DiGeorge Syndrome.

The diversity of clinical presentations makes the diagnosis of DiGeorge syndrome (DGS) a diagnostic challenge. The objective of our study was to report the clinical presentation of DGS in the post-childhood period. A retrospective study, investigating patients diagnosed clinically and genetically with DGS at Sheba Medical Center during the period of 2010-2013. Post-childhood period was defined as age >10 years. During the study period, 29 patients were diagnosed with DGS. Nine (31%) patients with DGS were diagnosed in their post-childhood period. The basis for clinical suspicion was diverse. However, once the suspicion was brought to attention, additional symptoms consistent with DGS were noted at up to 88% of patients who presented characteristic of facial features and developmental delay. Our research shows that diagnosing DGS patients in the post-childhood period is not uncommon. Characteristic facial features and developmental delay, although not leading presenting symptoms, are found very frequently in patients with DGS.

Impact of leading presenting symptoms on the diagnostic performance of high-sensitivity cardiac troponin T and on outcomes in patients with suspected acute coronary syndrome.

Diagnostic performance of high-sensitivity cardiac troponin T (hs-cTnT) varies depending on presenting symptoms in patients with suspected acute coronary syndrome (ACS). We compared performance measures of hs-cTnT among patients admitted to the emergency department with typical chest pain (angina), dyspnea, and atypical symptoms and assessed outcomes by leading presenting symptoms. A total of 658 patients suspected of ACS and presenting with typical chest pain (n = 241, 36.6%), dyspnea (n = 142, 21.6%), or atypical symptoms (n = 275, 41.8%) were included. Diagnostic accuracy of hs-cTnT on admission was higher among patients with typical chest pain compared to those with atypical symptoms [area under the curve (AUC) 0.823 vs AUC 0.776 vs AUC 0.705, P > 0.05 and P = 0.04]. Absolute concentration changes within 6 h improved accuracy among all subgroups, with the smallest added benefit in typical chest pain and dyspnea (ΔAUC, 0.078; P = 0.02 and 0.05, P > 0.05). During 1-year follow-up, dyspnea was associated with a higher risk of death (hazard ratio, 2.36; 95% CI, 1.26-4.43, P = 0.008) and death/AMI (hazard ratio, 2.23; 95% CI, 1.21-4.11, P = 0.01) compared to typical chest pain. Optimal discriminating values for hs-cTnT were higher among patients presenting with dyspnea compared to those with typical chest pain (91.2 vs 14.1 ng/L, P < 0.001). The diagnostic performance of hs-cTnT in patients with suspected ACS depends on the leading presenting symptom. Patients admitted with dyspnea represent a high-risk cohort in which the diagnosis of ACS is less frequent and with inferior performance of serial hs-cTnT measurements. Higher hs-cTnT cutoffs at baseline and absolute changes after 6 h help to identify non-STEMI (ST segment elevation myocardial infarction) in this population.

Comparison of imaging methods in POEMS syndrome

POEMS syndrome is a clinical condition with a very heterogeneous clinical manifestation. Its presentation as well as monitoring is complex and dependent on the clinician's experience. One of the leading presenting symptoms is based on evaluation of skeletal damage with typical osteosclerotic or mixed lesions. Our aim was to compare the usefulness of different imaging methods in the diagnostics of POEMS syndrome, such as conventional radiography, densitometry, technetium scintigraphy, PET/CT scan, MRI and angiography on a series of three patients with POEMS syndrome with different clinical manifestations and course of disease. Our series demonstrates different types of skeletal involvement in POEMS syndrome. Although conventional X-ray is the imaging method mostly used for the evaluation, its sensitivity and specificity is low. Under specific conditions, other imaging methods should be considered, giving a more complex outlook of the disease's skeletal involvement. Nevertheless, FDG-PET/CT confirmed its superiority in defining both skeletal lesions as well as the activity of the neoplastic process. We conclude that the different manifestation of the disease implies the necessity of a complex evaluation of imaging methods in mutual concordance. FDG-PET/CT emerges as the most contributive method for the evaluation of both the extent and activity of the disease.

Clinical, endocrine and ultrasonographic features of polycystic ovary syndrome in Thai women

To study the prevalence, reproductive hormone profiles and ovarian sonographic appearance of Thai women with polycystic ovary syndrome (PCOS). One thousand and ninety-five women were screened for oligomenorrhea/amenorrhea, and the clinical symptoms of hyperandrogenism. Ovarian morphology and volume were assessed by ultrasonography in diagnosed cases. Blood was taken for the measurement of the follicle stimulating hormone, luteinizing hormone, prolactin, testosterone, androstenedione, dehydroepiandrosterone and 17-hydroxyprogesterone. The prevalence of PCOS was 5.7%. The mean age of women with PCOS was less than that of non-PCOS cases (27.4 +/- 6.5 and 31.1 +/- 6.4 years, respectively; P < 0.0001). Abnormal uterine bleeding and infertility were the leading presenting symptoms. The mean ovarian volume in women with PCO appearance was 9.22 +/- 4.36 mL compared to 6.53 +/- 3.31 mL in those without this appearance (P = 0.04). Hyperandrogenemia was confirmed in 23 of the 62 cases (37.1%). The prevalence and clinical presentations of Thai women with PCOS were similar to those in other reports. However, hirsutism, elevated testosterone level and acanthosis nigricans were uncommon in our population. Serum androstenedione was a more sensitive indicator of hyperandrogenemia than total testosterone. Further research is needed to clarify whether there is an ethnic difference in endocrine profiles and risks of metabolic syndrome.

Review: Lupus in adolescence

Juvenile systemic lupus erythematosus (JSLE) represents 15-20% of all SLE cases. The leading presenting symptoms of JSLE are constitutional and not specific such as fatigue, headache, weight loss or mood swings. They are also encountered in healthy adolescents, which explains frequent diagnosis delay. The frequency of irreversible damage is high in JSLE and involves especially the renal, musculoskeletal and neuropsychiatric systems. Although the overall prognosis has markedly improved, thanks to earlier diagnosis and new therapeutic approaches, cardiovascular, hematological events and chronic renal failure remain severe, and constitute the main disease-related causes of death. Treatment is based on hydroxycloroquine and corticosteroids. Immunosuppressive agents must be discussed to decrease the duration of corticosteroids use. New drugs and monoclonal antibodies targeting B-cells and B-cell related cytokines are being evaluated with encouraging results. Management of JSLE has to challenge three objectives: controlling disease progression, obtaining patient's adherence to treatment, and preventing consequences of medication side effects on growth, puberty, development and fertility. Patients' quality of life and psychosocial development have also to be taken into account, as well as the organization of a successful transition from paediatric to adult care.

The Clinical Characteristics of Peyronie’s Patients with Notching Deformity

Peyronie's patients with notching deformity represent a small percentage of disease population, and the features of these patients have not been well established yet. To analyze the characteristics of Peyronie's patients with notching deformity. Peyronie's patients with notching deformity were compared with those with other type of penile deformities with regard to clinical features. During a 13-year period, a total of 703 patients with Peyronie's disease were evaluated at our institution. The patients were divided into two groups: group I consists of Peyronie's patients with notching deformity (N = 89) and group II patients with any other kind of penile curvature (N = 614). The clinical characteristics, presence of co-morbidities including diabetes mellitus, hypercholesterolemia, hypertriglyceridemia, hypertension, and ischemic heart disease, erectile status, and penile deformities were compared between the two groups. Pure notching deformity was detected in 12.6% (N = 89) of the patients. The mean age of men was 53.1 +/- 10.2 and 52.7 +/- 10.7 years in groups I and II, respectively, (P = 0.8). The leading presenting symptom was erectile dysfunction (68.5%), followed by penile deformity (51.6%), and pain on erection (17.9%) in group I, while it was penile curvature (77.1%), erectile dysfunction (54.6%), and pain on erection (14.4%) in group II. In group I, 27 patients (30.3%) were diagnosed during a standard evaluation for erectile dysfunction. Hypertension was significantly higher in group I (25.8%) than in group II (15.4%) (P = 0.022); whereas hypercholesterolemia was more common in group II (P = 0.008). There was no significant correlation between the presence or the number of co-morbid conditions and the presence of the notching deformity. Combined injection and stimulation test revealed a diminished erectile capacity in 46.1% of the patients in group I, while it was 31.7% in group II (P = 0.008). In group I, 62.9% had unilateral notching deformity, 34.8% had hourglass deformity, and 2.2% had combined hourglass and notching deformity. Overall, the notching deformity was localized in the distal penile shaft in 50.5%, proximal shaft in 40.4%, and mid-shaft in 8.9% of the patients in group I. In this large-scale series, pure notching deformity was detected in about one-tenth of patients with Peyronie's disease. Patients presented at the first half of the sixth decade of life and more than half of the patients were in the acute phase of the disease. The most common presenting symptom was erectile dysfunction. The notching deformity was more frequently localized at the base and tip of the penis.

Clinical Characteristics and Treatment of Pyomyositis: Review of 39 Cases in a Medical Center in Northern Taiwan

Pyomyositis, a disease characterized by suppuration within the skeletal muscle, is easily misdiagnosed as a rheumatic disease due to vague and nonspecific symptoms at presentation. The aim of this study was to analyze the predisposing factors, clinical characteristics, laboratory data, and disease course of patients with pyomyositis in Taiwan and compare with those cases reported in the literatures. Methods. We retrospectively reviewed medical records of 39 patients with pyomyositis admitted to National Taiwan University Hospital between April 1996 and December 2005 and assessed the risk factors for mortality by univariate and multivariate analyses. Results. The mean age of the patients was 54.5±19.9 years (range, 4.5–86 years) with equal sex ratio. Diabetes mellitus (DM) (38.5%) and trauma (20.5%) were the most common predisposing factors. The leading presenting symptoms in orders were pain (87.2%), fever (79.5%), and soft tissue swelling or mass formation (53.9%). Cellulitis was the most common presumed diagnosis at presentation. Blood cultures were positive in one-third of the patients. The leading causative organism was Staphylococcus aureus (50%), followed by streptococcal species (20.8%) and gram-negative bacilli (20.8%). 61.5% of the patients recovered completely, while 17.9% died. Risk factors for mortality in the univariate analysis included intravascular, streptococcal, and polymicrobial infections. Intravascular and polymicrobial infections were the only two independent prognostic factors in the multivariate analysis. Conclusion. A high proportion of comorbidities and a higher mortality rate were found in our patients with pyomyositis. Intravascular and polymicrobial infections were the independent risk factors for mortality in these patients.

Colorectal Cancer in Patients 20 Years Old or Less in Taiwan

Colorectal cancer (CRC) is predominantly a disease of the elderly population, but it sometimes occurs in young patients. The diagnosis of CRC in youngsters is often overlooked by physicians or presentation may be delayed. With assistance from the cancer registry center of Taipei Veterans General Hospital, we collected data on all types of colorectal malignancy, including carcinoma, adenocarcinoma, or lymphoma in patients aged 20 or younger. All available medical charts and pathologic specimens were reviewed in detail. A total of 28 cases were analyzed. The leading presenting symptom was abdominal pain (92%). The locations of the primary tumors were evenly distributed, and the major histologic type was predominantly adenocarcinoma. However, the proportion of mucinous adenocarcinoma was higher than that in the older population. Most of the cases were advanced (11 tumors were classified as Dukes stage C and another 11 as Dukes stage D). The overall 5-year survival rate was 21%. Despite the rarity of CRC during the first two decades of life, physicians need to be aware of the possibility and to evaluate suggestive signs and symptoms by colonoscopy or barium enema. Family history of CRC, inflammatory bowel disease, previous polyps, or familial polyposis did not play a crucial role in this group of young patients.

Oesophageal mucosal diseases in the elderly.

Diseases of the oesophageal mucosa are particularly prevalent in the elderly population and may present with various symptoms, such as heartburn, dysphagia or chest pain. Recent technological advances, such as endoscopy, ambulatory pH monitoring and radiological imaging, have allowed for a more accurate diagnosis and assessment of disease severity. Depending on the leading presenting symptom, empirical medical therapy or stepwise diagnostic tests may be used. Elderly patients with mild reflux symptoms respond well to over-the-counter antacids, acid suppressants or prescription prokinetic drugs. Those with more severe gastrooesophageal reflux disease and Barrett's oesophagus benefit from powerful acid suppressive therapy to relieve symptoms, heal the mucosal damage and prevent complications. Long term, cost-effective pharmacological therapies are constantly being defined. Because of the widespread utilisation of medications in the elderly, drug-induced oesophageal injury should always be considered and prevented. An increasing number of immunocompromised elderly patients are diagnosed and successfully treated for infectious oesophagitis. Overall, for most elderly patients, when the diagnosis is made correctly, modern medical and/or surgical treatments yield maximal therapeutic benefit and improve quality of life.

Functional Deficits of Cranial Nerves in Patients with Jugular Foramen Lesions

Lower cranial neuropathies are a leading presenting symptom in patients with tumors involving the jugular foramen. The purpose of this study is to assess acute and chronic functional deficits along with neurologic findings in 31 patients who underwent resection of a tumor involving the jugular foramen. Preoperative nerve dysfunction made intraoperative preservation unlikely, while postoperative lower cranial nerve dysfunction was found to be transient in many patients. Compensation of permanent dysfunction was usually excellent.