Project description:BackgroundGenus Desulfovibrio species is a sulphate-reducing anaerobic gram-negative rod that resides in the human oral cavity and intestinal tract. It was reported as the causative pathogen of bacteraemia and abdominal infections, but not renal cyst infection, and Desulfovibrio fairfieldensis has higher pathogenicity than other Desulfovibrio species.Case presentationA 63-year-old man was on haemodialysis for end-stage renal failure due to autosomal dominant polycystic kidney disease. On admission, he had a persistent high-grade fever, right lumbar back pain, and elevated C-reactive protein levels. His blood and urine cultures were negative. He received ciprofloxacin and meropenem; however, there was no clinical improvement. Contrast-enhanced computed tomography and plain magnetic resonance imaging revealed a haemorrhagic cyst at the upper pole of the right kidney. The lesion was drained. Although the drainage fluid culture was negative, D. fairfieldensis was detected in a renal cyst using a polymerase chain reaction. After the renal cyst drainage, he was treated with oral metronidazole and improved without any relapse.ConclusionsTo the best of our knowledge, this is the first reported case of a renal cyst infection with Desulfovibrio species. D. fairfieldensis is difficult to detect, and polymerase chain reaction tests can detect this bacterium and ensure better management for a successful recovery.
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
Project description:IntroductionThe cervical lymphoepithelial or branchial cleft cyst are benign dysembryologic cystic tumors developing in the anterolateral region of the neck. They are relatively uncommon anomalies.The aims of this study are to analyze the anatomoclinical features and to discuss the modalities of care for the management of this disease.Presentation of caseWe report a case of a 70 years-old woman who was admitted to our department with a complaint of painless mass in the right supraclavicular region. Clinical examination and radiological investigations found a mass compatible with cervical cyst. Treatment consisted of the complete resection of the cyst. histopathological examination found a Cervical lymphoepithelial cyst.ConclusionThe cervical lymphoepithelial can be easily misdiagnosed. It is imperative that clinicians make an accurate diagnosis for appropriate treatment (that is, surgical excision).
Project description:A 49-year-old female patient, asymptomatic, presented to the cardiology office for a right atrial mass, identified incidentally in a non-electrocardiogram (ECG)-gated contrast-enhanced computed tomography, performed for follow-up of pulmonary tuberculosis. Echocardiography, surprisingly, showed an anechogenic ovoid mass in the right atrium measuring 40 × 40 mm2, implanted in the interatrial septum without affecting the tricuspid valve. ECG-gated computed tomography angiography (CTA), confirmed the dimensions of the mass, which presented homogeneous content, calcified areas, and a 12-mm pedicle implanted near the ostium of the coronary sinus. Additionally, contrast uptake and infiltration of adjacent structures were ruled out. In the surgical field, an encapsulated mass with blood content was found, which pathology reported as a hematic endocardial cyst (HEC). These are rare cardiac masses, constituting 1.5% of all primary cardiac tumors. It is usually an incidental finding, and its clinical presentation will depend on its dimensions and the intracardiac hemodynamic impact. A highlighting feature is its anechogenic content on ultrasound, however, multimodality imaging allows for making diagnostic assumptions, discerning between primary cardiac tumors, and provides morphological and hemodynamic information useful for therapeutic decision making. The age of the patient, the large size of the HEC, and its location in the interatrial septum make up a completely atypical presentation of this rare disease, which motivated this report.
Project description:IntroductionRetroperitoneal bronchogenic cyst, typically situated in the subdiaphragmatic region, is a rare congenital benign developmental abnormality arising from dysplasia of the foregut and abnormal budding of the tracheobronchial tree. Due to its low incidence, there are limited reports regarding this condition.Case presentationFour retroperitoneal bronchogenic cysts near the left adrenal gland were identified without accompanying clinical symptoms. One case was misdiagnosed as an adrenal tumor prior to surgery, while the others were diagnosed as retroperitoneal cysts of uncertain origin. All cases underwent surgical resection, with three being performed laparoscopically and one utilizing robot-assisted techniques. Pathological reports confirmed the diagnosis of bronchogenic cyst in each instance. The prognosis was favorable for all four patients, with no complications or recurrences observed. Additionally, a literature review was conducted, encompassing 82 cases, which revealed similar characteristics and radiological manifestations in the majority of cases.ConclusionAlthough retroperitoneal bronchogenic cysts are rare developmental malformations lacking distinctive clinical and radiological features, reported cases exhibit similarities in certain clinical and imaging characteristics. This report offers additional insights into the diagnosis and management of this rare disease. Future reports are essential to enhance understanding of this disease.
Project description:Background/objectiveEmphysematous osteomyelitis (EO) of the spine is an uncommon type of osteomyelitis characterized by intraosseous gas-formation in the vertebrae. The objective of this report is to present a rare case of spine EO in a patient with emphysematous cystitis. A case-based review of the literature on spinal EO was also performed as an update to the relevant literature of this rare infection.Case description/methodsA 55-year-old female with diabetes mellitus and peripheral vascular disease (PVD) presented to our institution with recurrent falls, fatigue, and low back pain. Computed tomography (CT) and magnetic resonance imaging (MRI) scans confirmed emphysematous cystitis and EO at L4. Given the diffuse involvement, surgical intervention was deferred for IV antibiotic therapy. A case-based review was also conducted by searching the SCOPUS and PubMed databases for the following terms: "emphysematous osteomyelitis", "gas", and "spine". Only publications in English were included in this review.Key content/findingsUrine/blood cultures identified Klebsiella pneumoniae. After initial improvement with six weeks of broad-spectrum antibiotics, the patient re-presented with recurrent fevers and fatigue. Despite maximal medical therapy, the patient expired 2 months later due to multi-organ system failure. Including the present report, only 29 cases of spine EO have been described in the literature. Patients almost consistently presented with fever, elevated inflammatory markers, and localized pain. Most cases of spinal EO (89.7%) were monomicrobial. Escherichia coli (37.9%) and Klebsiella pneumoniae (27.6%) were the most causative organisms identified. Medical treatment universally consisted of broad-spectrum IV antibiotics prior to tailoring. Debridement and decompression, with or without fusion, were the main operative procedures performed for spine EO. Outcomes following spinal EO are varied with a 44.4% mortality rate.ConclusionsWe present a case of EO of the spine and concomitant emphysematous cystitis with Klebsiella pneumoniae and a case-based review of the literature. Appropriate work up for this rare infection should include inflammatory markers, cultures, and CT/MRI imaging. Treatment consists of IV antibiotics with anaerobic and gram-negative coverage. However, treatment guidelines and operative indications for spinal emphysematous osteomyelitis remain unclear.
Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
Project description:Bronchogenic cysts originate from abnormal budding of the tracheal diverticula during the embryological period. Inaccuracy in the process of growing of the ventral foregut will give rise to bronchogenic cyst. Scapular bronchogenic cyst is an extremely rare form of this anomaly. A three years old boy suffered for 2 years with left sided suprascapular cystic lesion which was gradually increasing in size. The swelling was 4 × 3 cm in size and non tender. The cyst was evaluated by CT scan that showed complex cystic lesion over the left scapular spine. Total excision of the cyst was done and histopathology showed cutaneous bronchogenic cyst. The proposed mechanism for such cutaneous lesion is that the accessory buds from the tracheobronchial tree/primitive foregut migrated from the thorax in an aberrant manner to lie in periscapular positions. The definitive treatment of scapular lesions is total surgical excision. The final diagnosis is based on the histopathological findings in the majority of cases.
Project description:IntroductionCiliated hepatic foregut cyst (CHFC) is a rare cystic lesion that arises from the embryonic foregut with approximately 100 cases reported. Most commonly identified in segment IV of the liver, CHFC is typically asymptomatic and incidentally found on abdominal imaging. It is important to consider this entity in the differential diagnosis of atypical liver lesions since CHFC carries a risk of transformation into squamous cell carcinoma. A suspicion of CHFC is therefore an indication for surgical resection.Case presentationA 62-year-old male presented to surgery consultation for further evaluation of a hepatic cyst incidentally found on abdominal ultrasound. The patient was completely asymptomatic. Both abdominal computerized tomography and magnetic resonance imaging scan confirmed a 4 cm subcapsular cyst in segment IVa. Additional workup was unremarkable. Considering the diagnostic doubt the patient underwent laparoscopic cyst enucleation. Histology revealed a ciliated pseudostratified epithelium consistent with a CHFC.Clinical discussionCHFC is a rare diagnostic entity that should be considered in the differential diagnosis of cystic hepatic lesions, particularly those located in segment IV of the liver. Since it is frequently asymptomatic, CHFC is usually found incidentally during surgery or imaging studies. Diagnosis of CHFC preoperatively is difficult due to the lack of specific radiographic findings. Moreover, metaplasia and squamous carcinoma can occur. Therefore complete surgical excision is the recommended treatment.ConclusionDespite its rarity, CHFC carries a risk of malignant transformation. Accurate diagnosis is mandatory and surgical excision is recommended even in asymptomatic CHFC.