Left-sided amyand hernia: report of two cases with review of literature.
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ABSTRACT:
SUBMITTER: Al-Mayoof AF
PROVIDER: S-EPMC4336050 | biostudies-other | 2014 Jun
REPOSITORIES: biostudies-other
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Project description:IntroductionAlthough relatively rare, an obturator hernia is a significant cause of intestinal obstruction. It usually occurs in emaciated elderly females. Computed tomography is the imaging modality of choice to diagnose obturator hernias.Case reportIn this report we present a case of an elderly female who presented to the emergency department with features suggesting bowel obstruction. The patient was admitted to the hospital and was initially managed conservatively. Two days later the patient underwent an exploratory laparotomy and was diagnosed with a left sided Richter type obturator hernia. The hernia was successfully reduced and the necrotic bowel was resected with end to end anastomosis.DiscussionAn obturator hernia is a rare type of abdominal hernias which often occurs in very thin old females. Patients with obturator hernias usually present with symptoms of acute or intermittent small bowel obstruction. Mild symptoms without abdominal pain may be due to incomplete obstruction or Richter type hernia. Computed tomography is considered the gold standard diagnostic modality for obturator hernias. An early surgical intervention is the treatment of choice.ConclusionThe clinical diagnosis of an obturator hernia is often difficult due to its nonspecific symptoms and infrequent signs. Yet early diagnosis is mandatory because its delay contributes to bowel necrosis and to the poor prognosis in these patients. Surgery remains the only effective management of this condition.
| S-EPMC6197568 | 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.
| S-EPMC4070928 | biostudies-literature
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.
| S-EPMC10446836 | biostudies-literature
Project description:IntroductionInternal hernia is a pathological condition resulting from abnormal protrusion of abdominal viscera through an opening in the intraperitoneal recesses of the abdominal cavity. Small bowel obstruction due to internal hernia is not common (0.25-0.9% of cases). The most common group is that of paraduodenal hernias (53%), of which the left-sided one is the most common type (75%).Presentation of caseWe report a case of a 43 year-old man with a history of recurrent abdominal pain, who was hospitalized because of an episode of acute small bowel obstruction. He had no previous surgery. Computed tomography revealed an encapsulated circumscribed cluster of jejunal loops in the left upper quadrant, near the ligament of Treitz, and the hernia orifice was adjacent to the left side of the inferior mesenteric vessels. Emergency laparoscopic surgery was performed: the small bowel was found completely herniated under the inferior mesenteric vessels. It was gradually reduced and the hernia space was closed with a running suture. The patient was discharged on the fourth day without complications.ConclusionLeft paraduodenal hernia is a rare cause of small bowel obstruction that should be taken into account in a patient with a history of recurrent abdominal pain or intestinal obstruction, and no previous surgery. Computed tomography is the standard for a correct diagnosis. Surgery is treatment of choice, because it reduces the risk of emergency and complications associated to hernia. Laparoscopic approach is feasible and effective, also in emergency situation.
| S-EPMC4818316 | biostudies-literature
Project description:BackgroundHemivertebra deformity, involving one or multiple vertebral bodies, is one of the important causes of congenital scoliosis. Congenital fetal hemivertebrae could be diagnosed by ultrasonography and confirmed by fetal magnetic resonance imaging during pregnancy. However, reports of hemivertebrae in twins during the perinatal period are very rare.Case presentationWe report two cases of congenital fetal hemivertebrae, each affecting one fetus in a dichorionic diamniotic (DCDA) twin pregnancy. We have also conducted a literature review of its prenatal screening, diagnosis, management, and outcomes. These two cases of congenital fetal hemivertebrae in one fetus of a DCDA twin were both initially found by ultrasonography and confirmed by fetal magnetic resonance imaging (MRI). One couple chose selective termination of the hemivertebrae fetus after they were extensively counseled by the multidisciplinary team regarding the treatment and prognosis of the hemivertebrae twin, and a healthy baby weighing 2320 g was delivered at the 37+ 1 gestational week. The other couple decided to continue the twin pregnancy and gave birth to two living newborns weighing 2580 g and 2060 g at 37+ 1 gestational weeks. These three babies were all in good health during follow-up.ConclusionsBased on our center's experience, comprehensive ultrasonography is necessary for early prenatal diagnosis of this condition. In addition, fetal MRI will confirm the diagnosis of hemivertebrae and provide parents with helpful information for their decision about the fate of the affected fetus.
| S-EPMC7441669 | biostudies-literature
Project description:The Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare disease caused by mutations in the CSNK2B gene, which is characterized by intellectual disability and early-onset epilepsy. Mosaicism has not been previously reported in CSNK2B gene. POBINDS is autosomal dominant and almost all reported cases were de novo variants. Here, we report two patients were diagnosed with POBINDS. Using Whole Exome Sequencing (WES), we detected two novel CSNK2B variants in the two unrelated individuals: c.634_635del (p.Lys212AspfsTer33) and c.142C > T (p.Gln48Ter) respectively. Both of them showed mild developmental delay with early-onset and clustered seizures. The patient with c.634_635del(p.Lys212AspfsTer33) variant was mutant mosaicism, and the proportion of alleles in peripheral blood DNA was 28%. Further, the literature of patients with a de novo mutation of the CSNK2B gene was reviewed, particularly seizure semiology and genotype-phenotype correlations.
| S-EPMC10067874 | biostudies-literature
Project description:Spontaneous lung intercostal hernia (SLIH) is a rare condition potentially carrying severe morbidity. About 120 cases have been described so far, with an apparently increasing number of reports in recent years. The main presenting findings are chest pain and bulging, with ecchymosis in the affected area, hemoptysis, respiratory distress, and signs of infection or incarceration being described as well. The gold standard treatment has not been established, and conservative management has been advocated as first-line treatment for asymptomatic patients. Here, we report a case series of five patients, and surgical repair was deemed necessary for four of them either at first evaluation or after failure of conservative management. One patient remains under surveillance and conservative management. We believe that SLIH surgical repair should be considered as first-line treatment for fit patients, due to the uncertainty of its mid- and long-term impact and described pejorative trend/defect enlargement. A proposed algorithm for SLIH management is also presented.
| S-EPMC9911423 | biostudies-literature
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.
| S-EPMC8384770 | biostudies-literature