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: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:Key clinical messageVenous spasm is an important reason for complicated or failed implantations of cardiac implantable electronic devices. Prevention or risk reduction of venous spasm during cardiac implantable electronic device implantation may be achieved by ultrasound or fluoroscopic imaging prior to puncture, cephalic vein cut-down, sufficient pre- and perioperative hydration, nitroglycerin injection and effective sedation, and analgesia.AbstractThis case report with literature review focuses on venous spasm as a potential cause for complicated implantations of cardiac implantable electronic devices. The case report is clinically relevant as it describes a progressive spasm affecting the axillary and the subclavian vein. A 66-year-old female complained of symptomatic atrial fibrillation (AF) and atypical atrial flutter despite interventional and medical treatment. As an ultimate treatment, she was scheduled for pacemaker implantation and atrioventricular node ablation. Several puncture attempts of the axillary vein failed. Despite venous blood aspiration, no guidewires could be advanced into the axillary vein. We performed a first venogram revealing significant spasm of the axillary vein. Another failed venous puncture occurred after change of access site to the subclavian vein. A second venogram displayed progression of the spasm, now affecting both the axillary and the subclavian veins. Normal saline perfusion was administered as well as intravenous isosorbide. Unfortunately, a repeated venogram after 15 min waiting time showed persistence of the spasm, still affecting both veins. The procedure was discontinued as the patient became uncomfortable. Venous spasm is an important reason for complicated or failed implantations of cardiac implantable electronic devices. Commonly used medical prevention and treatment are intravenous fluids and nitroglycerin. Prevention or risk reduction of venous spasm during cardiac implantable electronic device implantation may be achieved by ultrasound or fluoroscopic imaging prior to puncture, cephalic vein cut-down, sufficient pre- and perioperative hydration, nitroglycerin injection and effective sedation and analgesia.
Project description:Intravascular missile emboli to the right heart should be retrieved surgically if the risk of surgical complication due to sternotomy and cardiotomy is low. Endovascular retrieval is another possible method of extraction to be considered.
Project description:Introduction and importanceFunctioning pancreatic neuroendocrine tumors (pNETs) that express pancreatic polypeptide-PPomas-do not yet have a pathognomonic clinical syndrome associated with them due to their overall rarity and diverse symptoms. Moreover, in patients with MEN1, the often multifocal nature of pNETs presents a unique clinical issue.Case presentationWe report a case of a 22-year-old man with a known MEN1 gene mutation who was suffering from severe diarrhea (7-8 bowel movements per day) and was found to have only elevated PP levels on biochemical work-up. Ga68-DOTATATE PET/CT showed multifocal tumors in the body and tail of the pancreas that were not evident on contrast-enhanced CT. The patient underwent a successful laparoscopic radical antegrade modular pancreatosplenectomy (RAMP) and recovered well post-operatively with complete resolution of his diarrhea. Immunohistochemistry showed multiple pure PPomas.Clinical discussionThis case highlights the unique propensity for multifocal disease in patients with MEN1 mutations and the utility of functional imaging by somatostatin analogs, i.e., Ga68-DOTATATE PET/CT, in order to perform oncologic laparoscopic pancreatic resections.ConclusionPPomas in the setting of MEN1 mutations are a unique clinical entity due to their diverse associated clinical syndromes and propensity for multifocal disease.
Project description:The spectrum of presentation of intracranial hypotension is clinically perplexing. We report a case of 31-year-old post-partum woman who underwent an uneventful caesarean section under spinal anesthesia. From the second day of surgery she developed postural headache, the headache lost its postural character after few days. She then developed seizures and ataxic hemiparesis. Magnetic resonance imaging showed features of severe intracranial hypotension in the brain and the spinal cord, and magnetic resonance venography showed cortical vein and partial superior sagittal sinus thrombosis. Prothrombotic (etiological) work-up showed Protein C and S deficiency. She responded to anticoagulation therapy and recovered completely. On review of literature two distinct groups could be identified obstetric and non-obstetric. The non-obstetric group included patients who underwent diagnostic lumbar puncture, intrathecal injection of medications and epidural anesthesia for non-obstetric surgeries. Poor outcome and mortality was noted in non-obstetric group, while obstetric group had an excellent recovery.
Project description:Liddle syndrome is an autosomal dominant genetic condition that causes hypertension and hypokalemia due to a gain-of-function mutation in the SCNN1B or SCNN1G genes which code for the epithelial sodium channel in the kidney. This leads to increased sodium and water reabsorption causing hypertension. We report a case of a 27-year-old pregnant woman who was admitted for hypertension and hypokalemia and later diagnosed and treated for Liddle syndrome using amiloride. Maintaining a high suspicion of Liddle syndrome in pregnancy is essential in such cases to be able to adequately and effectively treat the hypertension. Due to physiological effects of pregnancy, the dose of amiloride may need to be increased as gestational age progresses up to a maximum dose of 30?mg orally per day.
Project description:Near-term intraplacental choriocarcinoma (IC) coexisting with massive fetomaternal hemorrhage (FMH) is rare, and its clinical course is poorly understood. Here, we report a new case from our hospital, with detailed discussion and literature review.A 21-year-old Chinese female at 35 weeks gestation was admitted to our hospital due to reduced fetal movement. Near-term IC coexisting with massive FMH was diagnosed after delivery.The mother and infant were followed 3 months after delivery. Beta-human chorionic gonadotropin (?-HCG), pathological examination of the placenta, and computed tomography scans were performed for the mother and ?-HCG was performed for the infant.The mother's ?-HCG serum level increased from 31,280?IU/L (6 days postdelivery) to 192,070?IU/L (49 days postdelivery), and then steadily fell to 42,468?IU/L (3 months postdelivery) without chemotherapy. The mother died from metastasis and cerebral hemorrhage. The infant survived and his ?-HCG serum level fell to within the normal range without chemotherapy.FMH associated with near-term IC is a rare disease. Measurement of maternal ?-HCG may therefore represent a useful parameter when IC is a possible differential diagnosis. A pathological examination of the placenta should be performed in all cases of FMH to better identify cases of IC. Future research should aim to develop methods of identifying which patients with IC should receive chemotherapy, whether we should use single- or multiagent chemotherapies, and whether there is a positive correlation between chemotherapy regimen and ?-HCG serum levels.
Project description:BACKGROUND:Chronic myeloid leukemia (CML) is a common hematologic malignancy; however, its occurrence during pregnancy is unusual due to its low prevalence in females of childbearing age. There are conflicting reports of how to best manage CML in pregnancy, particularly in the setting of leukocytosis. HEMAPHERESIS:A 30-year-old female was diagnosed with CML at 18 weeks' estimated gestational age. On initial presentation she reported fatigue, night sweats, and early satiety, and was found to have a white blood cell (WBC) count of 69.3 × 109 /L and platelet count of 366 × 109 /L. Her disease was managed during pregnancy using interferon-? alone despite persistent leukocytosis. CONCLUSION:CML may be effectively managed during pregnancy, even in the setting of leukocytosis, without the application of leukocytapheresis. Management relies not only upon the coordination of drug therapy and fetal monitoring, but requires close communication between multiple medical disciplines. Leukocytapheresis has been safely performed during pregnancy and may be a suitable adjunct management strategy in pregnant patients diagnosed with CML with specific clinical presentations, such as hyperleukocytosis (WBC count?>?150 × 109 /L) and/or symptomatic leukostasis.