Asymptomatic Woman Research Articles

An Incidental Finding on a Preprocedural Electrocardiogram

A middle-aged, asymptomatic woman with a medical history of Bartter syndrome and chronic kidney disease presented to the ambulatory clinic for a routine outpatient colonoscopy. The nurse practitioner ordered a resting 12-lead electrocardiogram to screen for prolongation of the corrected QT (QTc) interval, associated with increased risk for arrhythmia. The patient was in normal sinus rhythm at 77 beats/min. The QTc was 426 milliseconds. Notched P waves and a negative P terminal force in lead V1 were present. Because the QTc interval was normal, the colonoscopy was completed, and no complications occurred. The patient was referred to cardiology for a consultation.

Fragile X syndrome carrier screening in pregnant women in Chinese Han population

Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between September 2014 and May 2017 to determine the prevalence of FXS carriers in a large Chinese cohort of pregnant women. The FMR1 CGG repeat status was determined in 20,188 pregnant Taiwanese women and we identified 26 women with premutation (PM). The PM allele was transmitted to the fetus in 17 pregnancies (56.6%), and six of 17 expanded to full mutation (FM). One asymptomatic woman had a FM allele with 280 CGG repeats. Prenatal genetic diagnosis of her first fetus revealed a male carrying a FMR1 gene deletion of 5′ UTR and exon 1. Her second fetus was a female carrying a FM allele as well. This is so far the largest study of the FXS carrier screening in Chinese women. The prevalence of premutation allele for FXS in normal asymptomatic Taiwanese women was found to be as high as 0.13% (1 in 777) in this study. The empirical evidence suggests that reproductive FXS carrier screening in Taiwan might be cost-effective.

Insights Into Infrared Autofluorescence for Monitoring of Optic Disc Melanocytoma

A case report describing infrared autofluorescence findings in a case of optic disc melanocytoma (ODM): A 42 year old asymptomatic woman was diagnosed to have ODM in the left eye. Two years later, growth in the lesion was noted clinically. On infrared autofluorescence (IR-AF) imaging the lesion showed hypo-autofluorescence corresponding to the area of the pre-existing lesion surrounded by a more hyperautofluorescent arc temporally corresponding to the area of growth. We hypothesize that melanophagosome activity depleted the melanin content of the tumor which led to hypo IR-AF in a melanocytoma. Optical coherence tomography also contributed to the understanding of the infrared autofluorescence findings.

Rescue of Replication-Competent ZIKV Hidden in Placenta-Derived Mesenchymal Cells Long After the Resolution of the Infection.

The Zika virus (ZIKV) genome, its negative-strand viral proteins, and virus-like particles were detected in placenta-derived mesenchymal cells (MSCs), indicating that ZIKV persists after virus clearance from maternal blood and can be rescued by in vitro cultivation. We report for the first time the presence of replication-competent ZIKV in MSCs from an asymptomatic woman who acquired infection during pregnancy.

Familial Paget's disease of bone: Long-term follow-up of unaffected relatives with and without Sequestosome 1 mutations.

Familial Paget's disease of bone is inherited as an autosomal-dominant trait and mutations in the sequestosome 1 (SQSTM1) gene have been reported with variable frequency in patients with familial disease. The natural history, however, of the disease in family members with or without SQSTM1 mutations is unknown. To address this question, we investigated members of families with Paget's disease identified and genotyped in 2000 in The Netherlands without clinical, biochemical or radiological signs of Paget's disease. Seventy-five subjects, median age 56 years (range 44-93), with or without SQSTM1 mutations participated in the present study. Medical history was obtained and clinical examination and laboratory investigations were performed in all. When serum biochemical markers of bone turnover were increased, skeletal scintigraphy with SPECT-CT was performed. After a mean period of 15.9 ± 0.32 (SD) years no subject without SQSTM1 mutations (either from positive or negative families) developed Paget's disease. Of 14 carriers of SQSTM1 mutations, Paget's disease of the pelvis was diagnosed in a 74-year old asymptomatic woman. The incidence of new Paget's disease in SQSTM1 positive subjects was 7.1% and no mutation-negative subject developed the disease within 16 years of follow-up. Subjects without SQSTM1 mutations can be reassured whereas mutation carriers should consider screening. Our findings should be confirmed in other populations as currently unknown environmental factors that might be involved in the development of the disease may differ.

Giant Aneurysm of a Coronary-Pulmonary Artery Fistula: A Rare Cause of a Diastolic Murmur

A coronary-pulmonary artery fistula with giant aneurysmal dilatation is an extremely rare clinical constellation. The natural course of this disease and the incidence of complications are unknown. Hence, optimal treatment, particularly in asymptomatic patients, is still a matter of debate. Here we report a case of a 71-year-old asymptomatic woman with a diastolic murmur. Comprehensive cardiovascular assessments including cardiac computed tomography and invasive coronary angiography revealed a coronary-pulmonary artery fistula with giant aneurysmal dilatation. The patient was managed conservatively and has now been followed up for 5 years without any events.

Endometriosis of the Appendix

A 51-year-old healthy asymptomatic woman had an index colonoscopy for colorectal cancer screening, which was normal except for a prominent bulging mass at the appendiceal orifice (Figure A). Endoscopic evaluation of the overlying mucosa of the mass appeared normal using high-definition white light imaging, and mucosal biopsies were normal. Contrast-enhanced computed tomography imagines of the pelvis revealed a soft tissue density at the base of the appendix. Laparoscopy was unremarkable, aside from dense periappendiceal adhesions, and adhesiolysis with appendectomy and partial cecectomy was performed.

Isolated primary Hydatid cyst of kidney: A case report of asymptomatic patient


 We report an isolated primary hydatid cyst of kidney in a pregnant asymptomatic woman. We also present salient diagnostic feature of asymptomatic patients of hydatid cyst.

SAT-480 Clinical Cases TSH Secreting Adenomas

Introduction:TSH-secreting pituitary tumors represent about 2% of all pituitary adenomas and cause central hyperthyroidism. These tumors are characterized by high levels of free thyroid hormones in the presence of nonsuppressed serum TSH concentrations.Clinical cases: 1:A 52-year womanwith menstrual irregularity and hyperprolactinemia (127ng/mL). The pituitary´s MR showed a lesion (2.0 x1.8 x1.8cm). The diagnosis of TSHoma was made later when TSH achieved 4,78µU/mL (0.27-4.2), FT4 1.9ng/dL(0.93-1.7) and TRH stimulation test compatible. Treated with Ocreotide LAR (OCT LAR) and cabergoline, but the tumor became invasive. The surgery was indicated but the patient refused. 2:A 56-year womanwith weight loss, insomnia and hair loss. TSH 5.66µU/mL(0.5-5.3), FT4 2.4ng/mL(0.7-1.6), SHBG elevated, negativeantibodies andα-GSU in the normal range. The TRH stimulation test was compatible with TSHoma. The MR presented a tumor with 0.9x0.8x0.7cm. Treated with OCT LAR: good control of hyperthyroidism symptoms. 3: A 55-year man with headachesand visual field loss. TSH 2.47µU/mL(0.5-5.3), FT4 2.3ng/mL(0.7-1.6) and negative antibodies. The pituitary MR presented a tumor with 1.1x1.0x1.0cm and compression of the optic chiasm. The diagnosis was confirmed with the TRH stimulation and high level of α-GSU. The patient had an arrhythmia and the surgery was cancelled. He has been treated successfully with OCT LAR. 4: A 45-year-old asymptomatic woman with routine tests: TSH 5.11 μUI/mL(0.27-5.0), FT4 1.97ng/dL(0.75-1.10) and negative antibodies. The diagnosis was confirmed by α-GSU, TRH stimulation andpituitary lesion with 2.1x1.9x1.8cm. She has been treated with OCTand presented normalization of hormones, α-GSU and tumorreduction. 5:A 62-year-old woman with tremors, TSH 13.9 µUI/mL (0.45-4,5), FT4 2.2 ng/mL (0.6-1.3) and positive anti-TPO. The α-GSU was normal for postmenopausal woman, but had a high α-GSU/TSH molar ratio. The pituitary´s MR showed a lesion with 5 mm. The treatment with OCT LAR was indicated. 6:A 59-year-old woman withhyperthyroidism clinic and liver cirrhosis. TSH 6.29µUI/L (0.27-4.2), FT4 3.2ng/dL(0.93-1.7),α-GSU 2251ng/L (340-4000) and a 0.9 cm pituitary lesion. There was no tumor control with OCT LAR. Transesphenoidal surgery couldn'tbe considered because of coagulation disorders. Antithyroid drugs was contraindicated due to its hepatotoxicity. Then weperformed a radiosurgery but the patient lead to death after intestinalhemorrhage. 7:A 51-year-old man complaining of palpitations, irritability and tiredness. Laboratory tests showed an increase in FT4L: 2.3ng/dL (0.9-1.7) with inappropriately normal TSH: 1.77 μUI/L (0.27-4.2) and presence of pituitary microadenoma.Conclusion: In the presence of inappropriate normal or increased TSH levels and high FT4 levels the TSH- secreting pituitary adenoma should be considered even though is a rare disease.

Uterine rupture in twin pregnancy complicated with herniation of amniotic sac and umbilical cord: a case report

The typical symptom of complete uterine rupture is continuous pain in lower abdomen. The prognosis of a complete uterine rupture is poor. However, twin pregnancy with asymptomatic uterine rupture leading to two live fetuses are rare. The authors report a case of a 41-year-old asymptomatic woman with twin pregnancy (gravida 4, para 1) who presented with a large herniation of the amniotic sac through the left uterine horn that was detected by ultrasonography at 26 +5 weeks of gestation. After comprehensive counseling and under close observation, the patient chose to proceed with her pregnancy and extend the pregnancy to 28 +5 weeks gestation. Scarred uterine is the most common risk factor of uterine rupture during pregnancy. The typical symptom of complete uterine rupture is continuous pain in lower abdomen. However, there is no characteristic presentation in uterine rupture. Ultrasound and MRI are all important supplementary means to diagnose the uterine rupture. Therefore, obstetrician should pay more attention to the patients who have the related history or are suspected uterine rupture during pregnancy.

Management of Ductal Carcinoma In Situ (DCIS) of the Breast: Present Approaches and Future Directions.

Ductal carcinoma in situ (DCIS; intraductal carcinoma) of the breast is commonly found in an asymptomatic woman on routine screening mammography. The purpose of this review is to describe current approaches to the management of DCIS as well as areas for future investigation. Randomized trials have demonstrated that adding radiation treatment after breast conservation surgery (lumpectomy; surgical excision) reduces the rate of ipsilateral local recurrence by about half, and that adding hormonal therapy reduces the rate of all breast cancer events (ipsilateral plus contralateral). Early clinical studies attempted to stratify the risk of recurrence using conventional clinical and pathologic features. More recent clinical studies have attempted to define prospectively patients with lower risk DCIS for whom omission of radiation treatment after lumpectomy is a reasonable option. Molecular profiling is a newer approach to define risk stratification for DCIS. Combining molecular profiling with clinical and pathologic features appears to be more accurate in defining and stratifying the risk of recurrence after lumpectomy. After lumpectomy for DCIS, risk stratification using clinical and pathologic characteristics, and more recently molecular profiling, can help guide clinical decision-making for the use of radiation treatment and hormonal therapy. Ongoing studies are evaluating the possibility of de-escalating therapy, and in some studies, even using core biopsy alone, without surgical excision.

Physician and Nonphysician Estimates of Positive Predictive Value in Diagnostic v. Mass Screening Mammography: An Examination of Bayesian Reasoning.

The same test with the same result has different positive predictive values (PPVs) for people with different pretest probability of disease. Representative thinking theory suggests people are unlikely to realize this because they ignore or underweight prior beliefs when given new information (e.g., test results) or due to confusing test sensitivity (probability of positive test given disease) with PPV (probability of disease given positive test). This research examines whether physicians and MBAs intuitively know that PPV following positive mammography for an asymptomatic woman is less than PPV for a symptomatic woman and, if so, whether they correctly perceive the difference. Sixty general practitioners (GPs) and 84 MBA students were given 2 vignettes of women with abnormal (positive) mammography tests: 1 with prior symptoms (diagnostic test), the other an asymptomatic woman participating in mass screening (screening test). Respondents estimated pretest and posttest probabilities. Sensitivity and specificity were neither provided nor elicited. Eighty-eight percent of GPs and 46% of MBAs considered base rates and estimated PPV in diagnosis greater than PPV in screening. On average, GPs estimated a 27-point difference and MBAs an 18-point difference, compared to actual of 55 or more points. Ten percent of GPs and 46% of MBAs ignored base rates, incorrectly assessing the 2 PPVs as equal. Physicians and patients are better at intuitive Bayesian reasoning than is suggested by studies that make test accuracy values readily available to be confused with PPV. However, MBAs and physicians interpret a positive in screening as more similar to a positive in diagnosis than it is, with nearly half of MBAs and some physicians wrongly equating the two. This has implications for overdiagnosis and overtreatment.

Laparoscopic management of a small bowel obstruction caused by an endometriotic focus

Endometriosis is the presence of extra-uterine endometrial tissue and affects 6-10% of fertile women. In 3-37% of the cases it affects the gastrointestinal tract being the ileal location extremely infrequent. Symptoms are nonspecific, debuting as intestinal obstruction in 7-23% of cases. The definitive diagnosis is anatomopathological and the treatment in these cases of acute abdomen is surgery. We attach the present case due to its rarity, it is a young asymptomatic woman who debuts with a picture of intestinal obstruction that is treated by intestinal resection via laparoscopy confirming the endometriosis etiology.

Case report: de novo ANCA-associated vasculitis after kidney transplantation treated with rituximab and plasma exchange

BackgroundAnti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis causes end-stage renal failure in up to a third of cases even with treatment. The disease recurs occasionally after kidney transplantation, but new onset of ANCA-associated vasculitis after transplantation is highly unusual. The use of rituximab or plasmapheresis for de novo disease after transplantation has not previously been reported.Case presentationRoutine post-transplant follow-up for a 66-year old asymptomatic woman revealed a rise in creatinine from 1.8 to 2.6 mg/dl and increased proteinuria. She had received a cadaveric kidney transplant 20 months previously for end-stage autosomal dominant polycystic kidney disease. Renal allograft biopsy unexpectedly demonstrated pauci-immune glomerulonephritis with extracapillary proliferation and interstitial inflammation. Concurrent serum tested strongly positive for ANCA specific to proteinase 3 (PR3), but stored pre- and post-transplantation serum samples tested negative. These findings established a diagnosis of de novo ANCA-associated vasculitis in the renal allograft.We started treatment with high-dose corticosteroid and rituximab. Despite this, serum creatinine continued to rise and glomerulonephritis remained active in a repeat biopsy. Escalation of the treatment with seven sessions of plasmapheresis led to a temporary improvement in creatinine. No further features of vasculitis emerged and PR3-ANCA titres declined. However, multiple infections complicated the recovery period and were associated with progressive loss of renal transplant function. Four months after the index presentation, transplant function became insufficient and dialysis was restarted.ConclusionsDe novo ANCA-associated vasculitis after renal transplantation is exceptionally rare. It poses a significant risk to graft survival even in the context of intensified immunosuppression. Management relies on clinical evidence from populations with native renal function, yet post-transplant patients may be at increased risk of treatment-related adverse events. Precautions against these risks are crucial in the delivery of care.

Pancreatic Solid Pseudopapillary Tumor Presenting With Elevated DHEA and Testosterone

Solid pseudopapillary neoplasms (SPN) of the pancreas are extremely rare epithelial tumor with low malignant potential, account for 1-2% of exocrine pancreatic tumors. When symptomatic, these tumors come to light due to mass affect on neighboring structures. Peculiarly, we encountered a healthy 34-year-old female who was found to have an elevated dehydroepiandrosterone (DHEA) and testosterone level during evaluation of irregular menstrual cycles. She subsequently underwent a CT scan with no abnormalities of the adrenal glands; however, an indeterminate pancreatic tail mass was seen. MRI of abdomen further characterized the lesion as an enhancing pancreatic tail mass measuring up to 2.7 cm, that was concerning for pancreatic neoplasm. The patient underwent upper endoscopic ultrasound which confirmed a hypoechoic mass in the pancreatic tail, measuring 2.3 by 1.7 cm. An intact interface was seen between the mass and adjacent structures, suggesting a lack of invasion. Fine needle biopsy was performed and cytology revealed solid pseudopapillary tumor (Figures 1&2). The patient was advised to undergo distal pancreatectomy. Although there does to be a female predilection of SPNs, the underlying role of sex hormones (ie: estrogen and progesterone) in neoplasm growth or histogenesis remains unclear. One retrospective study, spanning 15 years, noted the clinical presentation was generally nonspecific. Abdominal or vague pain was seen in ˜70% of their patients and was followed by symptoms of tumor mass effects. SPNs are generally inactive on screening modalities such as tumor markers (ie: AFP, CEA, CA 19-9 and CA 125). Histochemically there is no evidence of pancreatic insufficiency, pancreatic parenchymal injury, abnormal liver function, or cholestasis. To our knowledge this is the first documented presentation with elevated DHEA and Testosterone level in an asymptomatic woman. Extensive workup reveled no secondary (including adrenal) etiology for her hormonal dysregulation. We recommend further review and investigation into this potential correlative relationship in an effort to guide future management of this unusual neoplasm.1319_A.tif Figure 1: No Caption available.1319_B.tif Figure 2: No Caption available.

Desmoplastic Ameloblastoma Mimicking Fibro Osseous Lesion: a Case Report

Desmoplastic ameloblastoma (DA) is a rare variant of ameloblastoma, exhibiting peculiar features. DA is more frequently seen in the anterior region of the jaw, without a predilection for gender or race. The aim of this study was to present a case of DA mimicking a fibro-osseous lesion. A 47-year-old asymptomatic woman was referred for surgical treatment of a lesion in the upper right maxilla, involving teeth #22 and #23, with a histological diagnosis of odontogenic fibroma. An intraoral examination showed normal mucosa with a discrete increase of volume. The main radiographic aspect was a hypodense multilocular lesion with imprecise limits. Based on the clinical localization and radiographic features, including conventional radiographic images and cone beam computed tomography, the histological diagnosis was reviewed and a new diagnosis was of DA was established. Conservative surgical treatment was conducted and the patient is under rigorous follow-up control.

Anomaly of Haughton type D left cervical aortic arch in combination with type B dissection: case report and literature review

BackgroundThe anomaly of cervical aortic arch is a rare phenomenon first described by Reid in 1914 and categorized by Haughton in 1975. The left cervical aortic arch Type D consisting of an ipsilateral descending aorta and coarctation or aneurysmatic formation of the arch demonstrates a complicated form requiring surgical management. Because of its rarity and unspecific symptoms only few cases are documented with the focus on surgical management.Case presentationA 43-year old, asymptomatic woman presented with a mediastinal mass overlapping the aortic arch region in a routine x-ray. For verification, a computed tomography was performed and revealed incidentally a type B dissection originating from an aneurysm of a left cervical arch with a maximum diameter of 6 cm. Because of the huge diameter and the potential risk of rupture, an urgent surgical repair was planned. Surgical access was performed through median sternotomy and an additional left lateral thoracic incision through the fourth intercostal space. Simultaneously to the preparation, partial cardiopulmonary bypass was installed in the left groin. After preparation of the recurrent and phrenic nerve and the supraaortic branches, the descending aorta was clamped. Before the distal anastomosis to a straight graft, we performed a fenestration of the dissection membrane about a length of 5 cm to preserve the perfusion of both lumina. Then, the straight graft was sutured to the proximal part of descending aorta. The left axillary artery originated directly from the aneurysm and was dissected and reimplanted with a separate 8 mm sidegraft to the straight graft between the distal arch and proximal descending aorta. The patient was extubated on first postoperative day and recovered well.ConclusionThe left cervical aortic arch type D is a rare disease, which is prone to aneurysm formation due to abnormal flow patterns and tortuosity of the aorta. The difficulty lays in the identification of the pathology, especially in the physical examination, since a pulsating mass or cervical murmur seem to be the most specific symptoms in the majority of young, female patients. If diagnosed, surgical therapy with resection of the aneurysm and reimplantation of the axillary artery under cardiopulmonary bypass demonstrates the treatment of choice.

Kardiomiopatia przerostowa u bezobjawowej 24-letniej kobiety w ciąży — postępowanie według wytycznych ESC

We present the case of a 24-years old asymptomatic pregnant woman in 18hbd with hypertrophic cardiomyopathy (HCM). An echocardiogram revealed the hypertrophy of all walls of left ventricle (LV), except for the posterolateral wall, from 21mm to 31mm and septal hypertrophy up to 36mm. During the first 48-h-ECG monitoring 5 episodes of slowVT consisted of 3 ExV up to 108/min were recorded. The 5-year HCM SCD (sudden cardiac death) risk score revealed the low risk of 2,25% - implantable cardioverter-defibrylator (ICD) not indicated. After a C-section delivery in 37hbd the control echocardiography revealed the enlargement of LV wall hypertrophy up to 38mm. In 48h-ECG monitoring 2 episodes of asymptomatic nsVT consisted of 4 and 7 ExV up to 162/min were registered. The 5-year HCM SCD risk came up to intermediate level: 5,91% (ICD may be considered, class IIb B of recommendations). Based on the clinical and echocardiographic findings with dynamic progress in the LV hypertrophy, exacerbation of ventricular arrhythmias and increase of NT-proBNP, the ICD was implanted. As presented by Maron & Maron at ESC Congress in London 2015, an MRI scanning with the late gadolinium enhancement (LGE) estimation may be helpful in making the decision on the ICD implantation, especially within the group of the intermediate 5-year risk of SCD (4-6%) with massive LV hypertrophy. Authors suggest the extensive LGE (≥15%) as a primary SCD risk factor and also as a potential risk factor when conventional evaluation of the ICD implantation indications is ambiguous.

Optimizing performance of BreastScreen Norway using value of information in graphical models.

This study proposes a method to optimize the performance of BreastScreen Norway through a stratified recommendation of tests including independent double or single reading of the screening mammograms and additional imaging with or without core needle biopsy. This is carefully evaluated by a value of information analysis. An estimated graphical probabilistic model describing the relationship between a set of risk factors and the corresponding risk of breast cancer is used for this analysis, together with a Bayesian network modeling screening test results conditional on the true (but unknown) breast cancer status of a woman. This study contributes towards evaluating a possibility of improving the efficiency of the screening program, where all women aged 50 to 69 are invited every second year, regardless of individual risk factors. Our stratified recommendation of tests is dependent on the probability that an asymptomatic woman has developed breast cancer at the time she is invited to a screening.

Magnetic Resonance Imaging and Flexible Hysterofiberscopic Findings of a Uterine Adenofibroma: Case Report and Literature Review

To our knowledge, highly detailed findings of flexible hysterofiberscopy in patients with adenofibroma have not been described. A 75-year-old nulliparous asymptomatic woman presented with a uterine polyp, which exhibited punctate heterogeneous hyperintensity or islands of isointense-to-hypointense signals on T2-weighted magnetic resonance imaging (MRI), hypointense signals on T1-weighted images (T1WI), and a little enhancement on contrast-enhanced T1WI. Flexible hysterofiberscopy revealed a red-pink polyp with a white-yellow, cobblestone-like surface easily deformed by perfusion fluid. The tumor was diagnosed histologically as an adenofibroma. Total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. The tumor in the uterus was necrotic macroscopically and histologically, and a residual adenofibroma could not be confirmed. At present, two years after surgery, the patient remains healthy. MRI and hysterofiberscopy can reveal the histological features of uterine adenofibromas and be useful for their diagnosis.