Laser Treatment of Darier Disease: Report of Two Cases and Systematic Review of the Literature
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ABSTRACT:
SUBMITTER: O’Brien K
PROVIDER: S-EPMC7736946 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
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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.
2024-11-13 | GSE278926 | GEO
Project description:Introduction and importanceReports of enterosalpingeal fistulae complicating Crohn's disease are scarce. They involve the last ileal loop and lead to a progressive destruction of the salpinx. Usually, no genital symptoms are found. In all the cases reported in the literature, the fistula was diagnosed intra-operatively and resection of the right salpinx was performed without the patient's pre-operative consent.Case presentationWe describe 2 cases of women presenting with an Enterosalpingeal fistulae complicating Crohn's disease. Radiological findings allowed a pre-operative diagnosis. Thus, the patients were warned of the right salpinx resection and consent was obtained.Clinical discussionEnterosalpingeal fistulae complicating Crohn's disease are exceptional. Indeed, to the best of our knowledge, only five cases have been reported till now. In all the reported cases, no genital signs were present. As for our patients who didn't experience such symptoms. Moreover, no radiological evidence of the enterosalpingeal fistula was found in the literature. Consequently, the fistula was always diagnosed intra-operatively. For our patients, radiological findings allowed a pre-operative diagnosis. This permitted to warn them of a possible resection of the fallopian tube. Intra-operative findings were unfortunately conflicting with its preservation.ConclusionEnterosalpingeal fistula is an exceptional complication of the Crohn's disease. No clinical findings are present. The diagnosis should be evoked when the CT-scan or the MRI show an abnormal apposition between the fallopian tube, the last loop and the cecum. Surgical resection of the involved salpinx with the diseased intestinal segment is unfortunately usually needed in a young patient population.
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Project description:Apatinib, a novel small molecule tyrosine kinase inhibitor that inhibits vascular endothelial growth factor receptor-2, was approved for metastatic gastric adenocarcinoma in China in Oct 2014. This is the first report on its use for advanced colorectal cancer as a kind of third-line therapy to date. Here we report two Chinese patients who presented with metastatic colorectal cancer who received apatinib 850 mg daily as a third-line therapy. Both the patients achieved favorable benefits in outcomes after the administration of apatinib. Patient 1 benefited 4 months progression-free survival and 11 months overall survival, while patient 2's progression-free survival was over 10 months. Both the patients presented hand-foot syndrome, and one of them suffered a slight impairment of liver function, mild elevated blood pressure, and proteinuria. But these adverse events were manageable with symptomatic treatment and dose reduction or a short-time drug withdrawal.
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Project description:Background: Extraocular sebaceous carcinoma (SC) arising in the vulva is extremely rare that no treatment consensus has been well-defined. Case presentation: We here presented two cases of vulval SC in a 31-year-old and a 62-year-old woman, respectively. Radical wide local excision was performed with free margin and they received no postoperative adjuvant therapy. No evidence of disease was detected after follow-ups for 12 months and 49 months, respectively. A comprehensive literature review of vulval SC was further conducted and other ten cases were included. The mean age was 55.9 years, nine patients were diagnosed with FIGO stage I diseases while the remaining three patients had metastatic lesions at initial diagnosis. Surgery was the mainstay treatment option that 11 (91.7%) underwent surgical resection, of which 5 patients received inguinal lymphadenectomy and 2 patients showed lymph nodes involved. Radiotherapy and chemotherapy were given in 2 and 1 patient, respectively. Two patients experienced recurrence within 1 year after initial therapy. At the final follow-up, ten patients had no evidence of disease, one patient was alive with the disease, and only one died of the disease. Conclusion: Radical wide local excision may be preferred in early-stage vulval SC and utilization of sentinel lymph node sampling should be recommended. Postoperative adjuvant therapy may be spared in patients with negative surgical margin and absence of lymph node involvement. Treatment of vulval SC referring to the guidelines of vulvar cancer should be administered in case of positive margins or metastatic disease.
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Project description:Vitamin K antagonists (VKAs) are used in the prophylaxis and treatment of thromboembolic disorders. Despite a high efficacy, their narrow therapeutic window and high response variability hamper their management. Several patients experience fluctuations in dose-response and are at increased risk of over- or under-anticoagulation. Therefore, it is essential to monitor the prothrombin time/international normalized ratio to determine the so-called stable dose and to adjust the dosage accordingly. Three polymorphisms, CYP2C9∗2, CYP2C9∗3 and VKORC1-1639G>A, are associated with increased sensitivity to VKAs. Other polymorphisms are associated with a request for a higher dose and VKA resistance. We described the clinical cases of two patients who were referred to the Clinical Pharmacology and Pharmacogenetics Unit of the University Hospital of Salerno for pharmacological counseling. One of them showed hypersensitivity and the other one was resistant to VKAs. A systematic review was performed to identify randomized clinical trials investigating the impact of pharmacogenetic testing on increased sensitivity and resistance to VKAs. Although international guidelines are available and information on the genotype-guided dosing approach has been included in VKA drug labels, VKA pharmacogenetic testing is not commonly required. The clinical cases and the results of the systematically reviewed RCTs demonstrate that the pharmacogenetic-based VKA dosing model represents a valuable resource for reducing VKA-associated adverse events.
| S-EPMC9605490 | biostudies-literature
Project description:BackgroundPrimary hepatic neuroendocrine carcinoma (PHNEC) is extremely rare. The diagnosis of PHNEC remains challenging-partly due to its rarity, and partly due to its lack of unique clinical features. Available treatment options for PHNEC include surgical resection of the liver tumor(s), radiotherapy, liver transplant, transcatheter arterial chemoembolization (TACE), and administration of somatostatin analogues.Case presentationWe report two male PHNEC cases and discuss the diagnosis and treatment options. Both cases presented with abdominal pain; case two also presented with symptoms of jaundice. The initial diagnosis for both cases was poorly differentiated grade 3 small-cell neuroendocrine carcinoma, based on imaging characteristics and the pathology of liver biopsies. Final diagnoses of PHNEC were arrived at by ruling out non-hepatic origins. Case one presented with a large tumor in the right liver lobe, and the patient was treated with TACE. Case two presented with tumors in both liver lobes, invasions into the left branch of hepatic portal vein, and metastasis in the hepatic hilar lymph node. This patient was ineligible for TACE and was allergic to the somatostatin analogue octreotide. This limited treatment options to supportive therapies such as albumin supplementation for liver protection. Patient one and two died at 61 and 109 days, respectively, following initial hospital admission.ConclusionsWe diagnosed both cases with poorly differentiated grade 3 small-cell PHNEC through imaging characteristics, immunohistochemical staining of liver biopsies, and examinations to eliminate non-hepatic origins. Neither TACE nor liver protection appeared to significantly extend survival time of the two patients, suggesting these treatments may be inadequate to improve survival of patients with poorly differentiated grade 3 small-cell PHNEC. The prognosis of poorly differentiated grade 3 small-cell PHNEC is poor due to limited and ineffective treatment options.
| S-EPMC5831736 | biostudies-literature
Project description:BackgroundMycetoma is a chronic granulomatous infection involving cutaneous and subcutaneous tissues. It is endemic in tropical and subtropical areas, but sporadic cases have been reported also in countries of temperate climate. The purpose of this paper is to review the cases of mycetoma in European subjects (and presumably acquired in Europe), to give an insight in the main factors associated with this condition, and to describe two previously unpublished cases observed at our Centre.Methods and findingsPubMed was systematically searched for case reports and case series of mycetoma in Europeans reported between 1980 and 2014, using specific search strategies. Two further cases diagnosed by the authors are described. Forty-two cases were collected. Eleven cases were caused by Scedosporium apiospermium, mainly in immunosuppressed patients from Bulgaria, Germany, the Netherlands, Portugal, Slovenia, Spain and the United Kingdom. Excluding all patients with immunosuppression, 29 cases remain. Most of them were reported from Bulgaria and in Albanian patients (all diagnosed outside Albania). In the Bulgarian case series many different micro-organisms, both bacteria and fungi, were isolated, while all the 5 cases from Albania were caused by Actinomadura spp. Other countries reporting cases were Greece, Italy and Turkey. In general, Actinomadura spp is the most frequent causative agent isolated, followed by Nocardia spp and Madurella mycetomatis. The foot was the most reported site involved. Most patients were medically treated, but unfortunately a long-term follow up (at least one year) was available only in a few cases.ConclusionsOur review and our own cases suggest that Europeans without travel history can be affected by Madura foot. The lack of a surveillance system is likely to cause an underreporting of cases. Moreover, the unfamiliarity of Western doctors with this peculiar infection may cause a mismanagement, including unnecessary amputations.
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Project description:Thiamine pyrophosphokinase (TPK) deficiency, is a rare autosomal recessive disorder of congenital metabolic dysfunction caused by variants in the TPK1 gene. TPK1 variants can lead to thiamine metabolic pathway obstacles, and its clinical manifestations are highly variable. We describe two cases of TPK deficiency with completely different phenotypes and different therapeutic effects, and 26 cases of previously reported were retrospectively reviewed to improve our understanding of the clinical and genetic features of the disease. Patients with TPK deficiency present with ataxia, dysarthria, dystonia, disturbance of consciousness, seizures, and other nervous system dysfunction. Different gene variant sites may lead to different clinical features and therapeutic effects. Gene analysis is important for the diagnosis of TPK deficiency caused by TPK1 variants, and thiamine supplementation has been the mainstay of treatment for TPK deficiency to date.
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Project description:ObjectiveTo report the efficacy and safety of CT-guided percutaneous laser ablation (PLA) for metastatic lung tumors.MethodsThree cases of metastatic lung cancer underwent CT-guided PLA, and we searched for previously published articles on the minimally invasive CT-guided RFA or MWA for lung tumors in recent five years.ResultsWith the guidance of CT, all lesions had good prognosis under laser ablation. Case 1 suffering from severe pulmonary dysfunction and diffuse pulmonary bullae, had small pneumothorax. CT scan obtained four months following the ablation showed two lesions had complete responses and one partial response. Case 2 had successful complete response with absent lung mass, and also had a good postoperative condition without any discomfort in the two-month follow-up. Case 3 showed partial response and improved greatly after five months. 962 cases (mean age of 45.7 years, 62.2% male) of 1297 lung tumors with detailed information were identified from 27 articles. Of these cases, the minority manifested complications such as pneumothorax, hemoptysis, hemothorax, pneumonia, pain and fever.ConclusionsPercutaneous CT-guided PLA could be a safe and promising minimally invasive treatment for patients with primary lung cancer or unresectable pulmonary metastases, especially multineedle PLA in large tumors, which still needs more large-scale prospective studies to convince this method in the future.
| S-EPMC5356791 | biostudies-literature
Project description: Not available
| S-EPMC3810010 | biostudies-literature