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1.
Front Surg ; 9: 834071, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35372487

RESUMO

The presentation of abdominal arteriovenous fistulas is classically described as a triad of a pulsatile abdominal mass with a bruit, high-output heart failure, and regional venous hypertension with primarily open operative therapy. In the following case, we present the treatment of a patient who arrived with acute right heart failure and renal failure due to an arteriovenous fistula and who was successfully treated with endovascular repair.

2.
Front Oncol ; 12: 879714, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35494087

RESUMO

Pheochromocytoma is a rare catecholamine-secreting tumor with highly variable clinical presentations. We herein report a patient who presented to the emergency department with precordia pain, elevated myocardial enzymes, T-wave inversions on electrocardiogram and segmental ventricular wall motion abnormalities on echocardiography, which is normally managed as suspected acute coronary syndrome (ACS). However, the urgent coronary angiography showed normal coronary arteries. During his hospital stay, a sudden increase in blood pressure allowed us to suspect a pheochromocytoma, which was confirmed by elevated levels of catecholamines and by the finding of a right adrenal mass on magnetic resonance imaging. The tumor was successfully excised and the patient is now asymptomatic. This case illustrates that pheochromocytoma can present as a mimic of ACS but this is often difficult to diagnose at first glance and often misleads clinicians into making an incorrect diagnosis. In addition, clinicians should be familiar with clinical manifestations of pheochromocytoma, which can help raise clinical suspicion and facilitate the early diagnosis and treatment of pheochromocytoma.

3.
BMC Pulm Med ; 22(1): 120, 2022 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-35361191

RESUMO

BACKGROUND: Anti-aminoacyl-tRNA synthetase (anti-ARS) antibodies are myositis-specific autoantibodies that have been identified in a subset of patients with interstitial pneumonia who do not present with dermatomyositis or polymyositis. Anti-ARS antibody-positive interstitial pneumonia is commonly treated with steroids or immunosuppressive agents and is usually responsive to these therapies. Here, we present in detail a case in which respiratory failure of a patient diagnosed with anti-ARS antibody-positive interstitial pneumonia was exacerbated by treatment with steroids and immunosuppressive agents. Further examination revealed misdiagnosis of this patient and a subsequent diagnosis of autoimmune pulmonary alveolar proteinosis. CASE PRESENTATION: A 66-year-old man presented to the hospital with dyspnea on exertion, which resulted in the detection of interstitial pneumonia. Serum anti-ARS antibodies were detected; however, there were no other findings suggestive of myositis. Pulmonary alveolar proteinosis (PAP) was suspected based on the marked increase in serum KL-6 and chest computed tomography findings. The bronchoalveolar lavage revealed no milky changes in the lavage fluid. After treatment with steroids and initiation of immunosuppressive agents for anti-ARS antibody-positive interstitial pneumonia, respiratory failure and chest imaging findings showed worsening of the condition. Bronchoscopy was repeated, and milk-like alveolar lavage fluid was collected; serum anti-granulocyte macrophage colony-stimulating factor antibody was identified. Steroids and immunosuppressive agents were gradually tapered and discontinued, and the patient's condition stabilized after repeated alveolar lavage under general anesthesia. CONCLUSION: Due to similar presentation, PAP can be misdiagnosed as interstitial pneumonia. If pulmonary lesions due to interstitial pneumonia are exacerbated by immunosuppressive treatment, physicians should reconsider the diagnosis and include PAP in the differential diagnosis.


Assuntos
Aminoacil-tRNA Sintetases , Doenças Autoimunes , Doenças Pulmonares Intersticiais , Proteinose Alveolar Pulmonar , Idoso , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/tratamento farmacológico , Erros de Diagnóstico , Humanos , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/tratamento farmacológico , Masculino , Proteinose Alveolar Pulmonar/diagnóstico , Proteinose Alveolar Pulmonar/tratamento farmacológico
5.
BMC Womens Health ; 22(1): 232, 2022 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-35710471

RESUMO

BACKGROUND: The optimal management of patients in reproductive endocrinology relies on the accuracy and validity of sex hormone assays. Endogenous or exogenous substances can compete with the analyte. This competition can result in interfering errors and falsely indicate elevated serum levels. Obvious interference in estradiol assays appears to occur rarely. Consequently, clinicians who are not familiar with the potential of interference could be misled. In addition to unnecessary investigations and interventions and severe mental stress, falsely elevated estradiol results can result in missed or delayed fertility opportunities. CASE: A 28-year-old female with pregnancy demand was diagnosed with polycystic ovary syndrome, Hashimoto's thyroiditis and subclinical hypothyroidism. She was found to have persistently elevated levels of serum estradiol in the early follicular phase (between 527 and 642 pg/mL). Screening workup was performed for nearly 11 months to find the causes. Serum tumor biomarkers were normal. Abdominal and pelvic computed tomography were negative for adrenal or adnexal masses. A left mesosalpinx cyst and benign pathological results were achieved by laparoscopic surgery. Hormonal substances and dietary supplements were absent, as determined by dietary records. Ultrasound confirmed follicles could grow slowly and eventually ovulate. Falsely elevated estradiol levels were suspected due to the discrepancy among high estradiol levels, follicle growth and normal gonadotropin levels. Immunological interference by heterophile antibody was finally verified by two competitive chemiluminescent immunoassay platforms (estradiol levels in the early follicle phase: 619 pg/mL, Siemens ADVIA CENTAUR and 60 pg/mL, Beckman, DxI 800). Successful clinical pregnancy was eventually achieved by combining induced ovulation, ultrasound monitoring and intercourse guidance. CONCLUSIONS: Analytical interference and laboratory error should be suspicious at first when the clinical characteristics contradict the laboratory results of serum hormones. Measuring serum estradiol with another immunoassay platform is an easy and non-time-consuming method to exclude the heterophile interfering.


Assuntos
Anticorpos Heterófilos , Hipotireoidismo , Adulto , Estradiol , Feminino , Fertilidade , Humanos , Imunoensaio/métodos , Gravidez
6.
Int J Surg Case Rep ; 96: 107265, 2022 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-35749944

RESUMO

Prostate synovial sarcoma (SS) is extremely rare. We report a case of prostate SS diagnosed using fine-needle biopsy. The following findings were found: The serum prostate specific antigen level was low, magnetic resonance imaging shows an irregular soft tissue mass in the right posterior part of the prostate, and computed tomography examinations did not reveal any tumor at other parts of the body. Microscopy showed that the tumor cell morphology was densely arranged by interwoven short strands of deep-stained nuclear spindle cells. Immunohistochemical tests were positive for SS18-SSX and SSX. Molecular testing showed that SS18 break-apart Fluorescence In Situ Hybridization (FISH) results were positive, and a comprehensive analysis of this case was performed. Nine cases of prostate SS reported in the English literature were reviewed. In addition, the differential diagnosis, clinical treatment, and clinical prognosis of prostate SS are comprehensively described.

9.
Int J Surg Case Rep ; 96: 107320, 2022 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-35749947

RESUMO

INTRODUCTION AND IMPORTANCE: Here, we discuss novel management with methotrexate for the rare case of a complete hydatidiform mole with a co-existing fetus (CHMCF). The management of CHMCF is controversial, and methotrexate might represent a solution. CHMCF management with methotrexate needs more study, especially its side effects, safe dosage, and the permissible period of pregnancy. CASE PRESENTATION: A 23-year-old Syrian primigravida came to our hospital with vaginal bleeding. The patient was diagnosed with a complete hydatidiform mole with a co-existing fetus. The mother had no complications but elevated B-HCG. After counseling, the decision was made to continue pregnancy with methotrexate to control B-HCG levels. The outcome was favorable though the infant had tetralogy of Fallot. CLINICAL DISCUSSION: In our case, the patient was stable except for the elevation of B-hCG levels, so we considered methotrexate to control it. On the other hand, methotrexate is considered a human teratogen. Case reports and case series of exposure to it during pregnancy began appearing in the 1960s. The sensitive period is suggested to be 6 to 8 weeks after conception. After discussing the choices with the patient, she elected to continue pregnancy and accepted methotrexate exposure to control B-hCG levels despite its risks. CONCLUSION: Methotrexate usage within a safe dosage should be studied more to determine the benefits and risks it carries in cases such as ours.

10.
Int J Surg Case Rep ; 96: 107327, 2022 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-35749948

RESUMO

INTRODUCTION AND IMPORTANCE: Schwannomas are benign tumors originating from Schwann cells of nerve fibers. Pelvic schwannomas are extremely rare. Here, we present a case of a 48-year-old woman with a pelvic schwannoma imitating degenerating cystic leiomyoma. CASE PRESENTATION: A 48-year-old woman presented with brown-yellowish bloody vaginal discharge, fever, abdominal enlargement, and pain. Abdominal ultrasound showed a homogeneous solid mass with a clear border separated from the uterus and left ovary. Computed tomography (CT) scan revealed a multilocular cystic mass with thick septa and solid enhancing component. Histopathological examination showed a mesenchymal tumor composed of cells with fine chromatin. The nuclei were oval or round, and some cells exhibited spindle and cigar-shaped nuclei. Tumor cells had an abundant amount of eosinophilic cytoplasm. Immunohistochemical examination demonstrated positive expression for S100 as specific staining for schwannomas. Mitosis was not found, and hyalinized blood vessels were observed. CLINICAL DISCUSSION: Compression by the tumor into the surrounding organs, such as the bladder and intestines, could cause difficulty with defecation and urination in patients. The absence of specific signs and symptoms can lead to a misdiagnosis of pelvic schwannoma. Surgery is the treatment of choice. It is difficult to establish a definitive diagnosis before surgery. Laparotomy approach was taken and a histopathological examination was completed to confirm the diagnosis. CONCLUSION: Unspecified pelvic pain with abdominal mass may suggest a rare tumor such as schwannoma. Transvaginal ultrasonography is incapable of reliably distinguishing between schwannoma and other tumors.

12.
J Med Case Rep ; 16(1): 248, 2022 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-35751086

RESUMO

BACKGROUND: Hereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to peripheral neuropathy often with autonomic features, cardiomyopathy, or a mixed phenotype. Multiple other organ systems can be involved with ophthalmologic, renal, hematologic, gastrointestinal, and/or genitourinary symptoms and signs. This often results in assessments by multiple specialists and significant delays before the diagnosis is recognized. With the recent advent of potentially lifesaving therapies, early diagnosis has become even more important. Our case highlights the protean aspects of this disease as well as the difficulty of making this diagnosis, especially in the absence of a clear family history. CASE PRESENTATION: We report the case of a 64-year-old man of East-Asian descent who presented with diarrhea, mild anemia, and symptoms of peripheral neuropathy. Numerous investigations and specialist evaluations did not identify a cause. Progression of neurologic symptoms and the development of new hematologic abnormalities ultimately led to consideration of hereditary transthyretin amyloidosis. The diagnosis was confirmed after re-examining previously acquired gastrointestinal biopsies and pursuing genetic testing, which confirmed a pathogenic mutation in the transthyretin gene. He was subsequently started on a novel gene-silencing therapy. On clinical follow-up 8 months after initiation of therapy, the patient described stabilization of previously progressive numbness, weakness, and weight loss with an unchanged neurologic examination and stable repeat electrophysiologic testing. CONCLUSIONS: Hereditary transthyretin amyloidosis is a challenging disease to recognize in early stages owing to its multisystem and nonspecific manifestations. Recent approval of novel therapies highlights the importance of early diagnosis before irreversible organ damage occurs.

13.
BMC Womens Health ; 22(1): 251, 2022 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-35751118

RESUMO

BACKGROUND: Primary clear cell adenocarcinoma of the urethra is extremely rare, reported only in single case reports, and its histological origin is not clear. There is no standard treatment for CCAU at present, and surgery is still the main treatment for CCAU without distant metastasis. CASE PRESENTATION: A 67-year-old female complained of gross hematuria with frequent micturition and urgency. No urethral diverticulum was found by cystoscopy or MRI, and the mass grew around the urethra. Urethral and anterior pelvic viscera resection was performed. Clear cell adenocarcinoma was confirmed by immunohistochemistry after the operation, and no recurrence or metastasis was found after one year of follow-up. CONCLUSION: CCAU is very rare, and most cases originate from the urethral diverticulum and some may also originate from tissues around the urethra. For CCAU patients without distant metastasis, the main treatment is still surgery, and radiotherapy and chemotherapy can be performed for patients with distant metastasis. Gene detection may provide guidance for the precise chemotherapy of CCAU.

14.
J Int Med Res ; 50(6): 3000605221102081, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35751419

RESUMO

Dedifferentiated liposarcoma (DDLPS) is a rare subtype of liposarcoma with a poor prognosis. This current case report describes a rectal DDLPS in a 68-year-old Chinese male that presented with lower abdominal pain and weight loss. Computed tomography and magnetic resonance imaging were undertaken to evaluate the tumour. The patient underwent radical resection of the rectal tumour, sigmoid colostomy and partial ureterectomy. The tumour was positive for mouse double minute 2 by immunohistochemistry. The patient healed well but refused chemotherapy postoperatively for economic reasons. The tumour recurred and metastasized 4 weeks after the operation. After relevant treatment, the patient's condition deteriorated and he died of shock, metabolic acidosis, hyperlactataemia and acute renal failure. The case report also reviews the literature in terms of the clinical diagnosis, treatment and pathological characteristics of rectal DDLPS with the aim of improving the level of diagnosis and treatment.

15.
J Cutan Pathol ; 2022 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-35751643

RESUMO

Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMCT) is a recently described entity with only 13 cases reported in the literature. Histopathologically, the neoplasm consists of atypical epithelioid to spindled cells that form a well-circumscribed nodule confined to the dermis and subcutis with cytological features including large vesicular nuclei with prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemistry shows variable expressivity of melanocytic markers. Currently, there is limited data regarding long-term outcomes of this newly described entity. Most cases have done well, but there is one case reported with an adverse event. Hence, further studies are needed to accurately classify this tumor. Definitive diagnosis is made by laboratory evidence of CRTC1::TRIM11 fusion. Herein, we report the first case of CMCT with epidermal involvement in the youngest patient known to be affected to date.

16.
Int J Surg Case Rep ; 96: 107158, 2022 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-35709632

RESUMO

INTRODUCTION: Renal cell carcinoma (RCC) is well known for its ability to metastasize into different organs. However, the management of metachronous RCC is still not yet standardized. CASE PRESENTATION: A 62 years old man was presented with haematuria for the last 2 months. CT scan revealed bladder mass with a size of 2,5 cm and underwent en-bloc resection of bladder mass. The histopathological result showed non-muscle-invasive bladder clear cell renal carcinoma. The patient had a history of left nephrectomy in 2017 and meningioma mass metastasectomy in 2020 with the same histopathological origin. CONCLUSION: Bladder metastasis of RCC can be treated by endoscopic surgical intervention.

17.
BMC Gastroenterol ; 22(1): 307, 2022 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-35739486

RESUMO

BACKGROUND: Hypercontractile esophagus is a rare hypercontractile esophageal motility disorder. The etiology of hypercontractile esophagus is unknown but an association between acid reflux and hypercontractile esophagus has been suggested. We present the first report on the use of potassium-competitive acid blockers in the treatment of hypercontractile esophagus. CASE PRESENTATION: A 43-year-old man presented with dysphagia, chest pain and regurgitation for a period of 1 year. Initial workup showed a twisted lumen with abnormal contractions in the distal esophagus during upper gastrointestinal endoscopy and abnormal acid exposure under 24-h esophageal pH monitoring. The use of standard-dose proton pump inhibitors didn't relieve his symptoms. Subsequent high-resolution esophageal manometry made a diagnosis of hypercontractile esophagus. Treatment with vonoprazan resulted in symptomatic resolution and abnormal contractions were no longer detected on follow-up high-resolution manometry. CONCLUSIONS: Potassium-competitive acid blockers like vonoprazan offer an alternative therapeutic method for patients with hypercontractile esophagus who are refractory to proton pump inhibitor therapy. The use of potassium-competitive acid blockers in hypercontractile esophagus warrants further research and may provide evidence for an acid-related etiology of hypercontractile esophagus.

18.
BMC Musculoskelet Disord ; 23(1): 609, 2022 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-35739487

RESUMO

BACKGROUND: A chronic expanding hematoma (CEH) is a rare complication caused by surgery or trauma; it mostly affects the soft tissues, such as those in the trunk or extremities. We present the first case of a large intraosseous CEH presenting with chronic disseminated intravascular coagulation (DIC), 22 years after total hip arthroplasty (THA); the CEH was treated with a single-stage excision and revision THA. CASE PRESENTATION: A 67-year-old man presented to our hospital with left thigh pain and an enlarging mass. He had no history of trauma, anticoagulant use, or a collagen vascular disorder. The patient initially declined surgery. Two years later, radiographs and computed tomography images revealed progressive osteolysis, marginal sclerosis, and calcification in the left femur, in addition to loosening of the femoral component. Laboratory data revealed anemia and chronic DIC of unknown causes. Magnetic resonance imaging revealed a "mosaic sign" on the mass, indicating a mix of low- and high-signal intensities on T2-weighted images. Needle biopsy prior to surgery revealed no infection or malignant findings. An intraosseous CEH was suspected due to extensive osteolysis and loosening of the femoral component. No other factors that could induce chronic DIC were identified, such as sepsis, leukemia, cancer, trauma, liver disease, aneurysms, or hemangiomas. Therefore, we speculated that the anemia and chronic DIC were caused by the large intraosseous CEH. A single-stage revision THA with surgical excision was performed to preserve the hip function and improve the chronic DIC. The postoperative histopathological findings were consistent with an intraosseous CEH. The anemia and chronic DIC improved after 7 days. There was no recurrence of intraosseous CEH or chronic DIC at the 6-month follow-up. The left thigh pain improved, and the patient could ambulate with the assistance of a walking frame. CONCLUSIONS: The loosening of the femoral component caused persistent movement, which may have caused intraosseous CEH growth, anemia, and chronic DIC. It is important to differentiate CEHs from malignant tumors with hematomas. Furthermore, the "mosaic sign" noted in this case has also been observed on magnetic resonance images in other cases of CEH.

19.
BMC Ophthalmol ; 22(1): 274, 2022 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-35739512

RESUMO

BACKGROUND: Long anterior lens zonules (LAZs) is a rare disease that was mostly conducted among African Americans. Through the observation of a Chinese patient, we discoverd that the disease may show different characteristics in Asians. CASE PRESENTATION: A patient with vision loss due to a macular hole was found to have several special clinical signs during vitrectomy combined with phacoemulsification and intraocular lens implantation surgery in our hospital, including radially oriented lines on the anterior capsule with pigment, a shallow anterior chamber, slightly high intraocular pressure, and radial retinal stripes in the peripheral retina. Finally, he was diagnosed with long anterior lens zonule syndrome. CONCLUSION: Clinicians need to pay more attention to the rare disease LAZs. It is important to tear the appropriate size of the anterior capsule so as to avoid radial capsular tearing and intraocular lens dislocation.

20.
J Med Case Rep ; 16(1): 261, 2022 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-35739572

RESUMO

BACKGROUND: We report a rare case in medical literature of a patient with pineal gland teratoma and uncommon metastases. Usually, metastases of this kind of tumor are located in several organs such as lung and breast, but here we found metastases to the spinal cord and vertebrae. CASE PRESENTATION: A 35-year-old Asian white man presented with diplopia and acute neural symptoms in the lower limbs such as numbness, tingling, and paralysis. His medical history was notable for pineal teratoma, treated 1 year previously with surgery, radiotherapy, and chemotherapy. Physical examination of the lower limbs showed absent reflexes and sensation with muscle power scale score of 1 in both limbs. Magnetic resonance imaging of brain and spine revealed many lesions in various locations, most compatible with neural, spinal, and vertebral metastases. Unfortunately, the patient died suddenly before any intervention was carried out. CONCLUSION: It is extremely rare for pineal region teratoma to metastasize to the spinal cord and vertebrae, thus more vigilant observation and examination should be provided to patients with pineal teratoma to detect any new lesions and prevent them from becoming dangerous.

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