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: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: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: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: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.
Project description:ObjectiveTo report a case of early pregnancy loss successfully managed by hysteroscopic resection, review the literature comparing hysteroscopic resection to dilation and curettage for retained products of conception, and review potential advantages of hysteroscopic resection over dilation and curettage for management of early pregnancy loss.DesignCase report.SettingPrivate practice.PatientsOne woman with early pregnancy loss.InterventionsHysteroscopic resection using a mechanical morcellation device.Main outcome measuresComplete uterine evacuation after hysteroscopic resection as demonstrated by a normal transvaginal ultrasound and cessation of bleeding 2 weeks after surgery.ResultsThe hysteroscopic fluid deficit was 365 ml, with minimal blood loss. Products of conception were confirmed on pathologic examination. There were no intraoperative or postoperative complications. A saline infusion sonogram obtained 4 months after surgery demonstrated a normal endometrial cavity with no intrauterine adhesions.ConclusionsSurgical management of early pregnancy loss may be complicated by retained products of conception (RPOC) or intrauterine adhesion formation, which can lead to adverse fertility outcomes in the future. Hysteroscopic resection of RPOC has been associated with fewer cases of intrauterine adhesions, more cases of complete tissue removal, and earlier time to conception compared with dilation and curettage. Early pregnancy loss can also be characterized as RPOC with potentially similar benefits from hysteroscopic resection. Thus, hysteroscopic resection can be considered as an alternative surgical technique for management of early pregnancy loss. This case report demonstrates the successful application of hysteroscopic resection in a case of early pregnancy loss.
Project description:Behçet's disease is an inflammatory disease, the origin of which still remains unclear, and it has multiple manifestations, one of them being thrombosis. In this report, we describe the case of a 24-year-old Moroccan patient who presented with headache persisting for more than 2?weeks, which was found to be caused by cerebral venous sinus thrombosis. His medical history of recurrent oral and genital ulcerations, epididymitis and one episode of pericarditis led to the diagnosis of Behçet's disease. We could observe an almost complete relief of symptoms with colchicine therapy, and anticoagulation with warfarin was started for secondary prevention of thrombosis.
Project description:Since the first successful replantation of a human thumb reported by Komatsu and Tamai in 1968, thousands of severed digits and body parts have been successfully salvaged. Restoration of anatomic form and function are the goals of replantation after traumatic tissue amputation. Regardless of anatomic location, methods include microsurgical replantation and nonmicrosurgical replantation, such as composite graft techniques. Numerous techniques to maximize tissue survival after revascularization have been described, including "pocket procedures" to salvage composite grafts, interposition vein grafts, and medicinal leeches to name a few. Artery-to-venous anastomoses have been performed with successful "arterialization" of the distal venous system in fingertip replantation. Although there is documented survival of free venous cutaneous flaps, to our knowledge this is the first report of a replanted composite body part (bone, tendon, soft tissues, and skin) utilizing exclusively multiple, microvascular, nonarterialized venous-venous anastomoses. We present a patient with an isolated band saw fillet amputation to the back of the thumb at the metacarpal-phalangeal joint region, resulting in a composite graft composed of bone, tendon, soft tissue, and skin. The hand wound provided no viable regional arterial inflow source, but there were multiple good caliber superficial veins present. The amputated tissues were replanted and revascularized by using only venous blood flow. The replanted part survival was 100% with excellent function of the digit. We conclude that a hand composite body part involving bone, tendon, soft tissues, and skin can survive replantation with a strict venous blood supply if sufficient good caliber, microvascular, venous-venous anastomoses are performed, granted that arterial inflow options are not available. This is an isolated case, yet introduces a new way of thinking regarding tissue replantation.