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Though there is a strong clinical and radiological suspicion of malignancy in the hypertrophied gastric mucosa, MD should be one of the important differential diagnoses.In this report, we describe a rare case of open rerupture of an Achilles tendon following primary surgical repair. The rerupture occurred 12 weeks postoperatively and was associated with a transverse open wound perpendicular to the original surgical incision. This complication was successfully managed utilizing the preexisting transverse wound and a minimally invasive repair technique, minimizing further risk to the soft tissues overlying the tendon. This rare complication has only been described a few times in the literature and is likely associated with adhesions between the tendon repair and the subcutaneous tissues.
Pelvic and lumbar spine injuries are very common especially in multiple trauma patients. The usual mechanism in young patients leading to pelvic fractures is a high-energy trauma such as traffic accidents. In elderly patients, low energy traumas are causal for such injuries. Compared to the high number of patients with pelvic or lumbar spine injuries, cerebral fat embolism is a quite rare finding but it needs to be considered to not misinterpret the radiological findings.
We present the case of a 41-year-old patient, who got hit and trapped in the lumbar region by a hydraulic arm in a car repair shop. The patient was primarily admitted to a level II trauma center. The radiological and clinical examinations revealed an open pelvic type C injury in terms of a spinopelvic dissociation, dislocation of the left hip joint, rupture of the mesentery of the rectum and colon sigmoideum, and a complex injury to the left ureter. Additionally, CT scan showed fluid with higher density than cerebro spinal fluid (CSF) ine the consequent therapeutic strategy is quite different. In case of intrathecal fat embolism, a ventricle drainage system should be placed immediately, and the underlying spine or pelvic injuries need to be stabilized combined with closure of the dural sheath to prevent continuous fat embolism and meningeal infection.
Intrathecal fat embolism in muliple trauma patients is a rare condition, which should be considered in patients with complex spine or pelvic injuries. It is important to distinguish this rare condition from intracranial bleedings, which are much more common because the consequent therapeutic strategy is quite different. In case of intrathecal fat embolism, a ventricle drainage system should be placed immediately, and the underlying spine or pelvic injuries need to be stabilized combined with closure of the dural sheath to prevent continuous fat embolism and meningeal infection.Hepatocellular carcinoma (HCC) most commonly presents with abdominal pain or mass, fever of unknown etiology, weight loss, and decompensation of known liver disease or at an asymptomatic stage through surveillance. Rarely, presenting symptoms can be exclusively related to extrahepatic metastases. Herein, we write a case of a patient with no known liver disease, presenting with a pathological fracture of the proximal humerus bone secondary to a massive solitary metastasis from HCC. This case represents an unusual appendicular skeletal metastasis in a patient with unknown primary HCC, successfully treated with sorafenib. The prognosis of HCC patients with extrahepatic metastasis is poor, and in the presence of bone metastases, the mean survival rate is severely reduced. However, the multikinase inhibitor sorafenib has been the standard of treatment. Recently, there has been developments of other therapeutic class of drugs (i.e., immune check inhibitors), which have shown promising benefits and better side effect profiles. Still, there is a need for further studies, owing to challenges in recognizing cellular and molecular markers.Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare disease described in 1966. It is characterized by severe dermatitis, a peculiar face, frequent infections, extremely high levels of serum IgE and eosinophilia, all resulting from a defect in the STAT3 gene. A variety of mutations in the SH2 and DNA-binding domain have been described, and several studies have searched for associations between the severity of the clinical symptoms, laboratory findings, and the type of genetic alteration. We present two children with AD-HIES-a girl with the most common STAT3 mutation (R382W) and a boy with a rare variant (G617E) in the same gene, previously reported in only one other patient. Herein, we discuss the clinical and immunological findings in our patients, focusing on their importance on disease course and management.Mucosal-associated lymphoid tissue (MALT) lymphoma can typically be identified as a mass lesion or nodularity endoscopically and macroscopically. We report an incidental finding of a Helicobacter pylori gastric mucosal-associated lymphoid tissue (MALT) lymphoma in a sleeve gastrectomy specimen with no gross examination findings.Salivary gland tumors (SGTs) of parotid origin are a group of diverse neoplasms which are difficult to classify due to their rarity and similar morphologic patterns. Chromosome analysis can detect clonal abnormalities, and array comparative genomic hybridization (aCGH) analysis can define copy number alterations (CNAs) from tumor specimens. Of the 19 cases of various types of SGTs submitted for cytogenomic analyses, an abnormal clone was detected in nine cases (47%), and CNAs were detected in 14 cases (74%). Recurrent rearrangements involving the PLAG1 gene at 8q12, recurrent CNAs including deletions of 6q, 9p (CDKN2A), and 17p (TP53), loss of Y chromosome, and gain of chromosome 7 were defined from these cases. Combined karyotyping and aCGH analyses could improve diagnostic yield. Future study for more precisive correlation of SGT classification with cytogenomic abnormalities will facilitate better diagnosis and treatment.Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease. Five to ten percent of patients have monogenic form of the disease, while most of sporadic PD cases are caused by the combination of genetic and environmental factors. Microtubule-associated protein tau (MAPT) has been appointed as one of the most important risk factors for several neurodegenerative diseases including PD. MAPT is characterized by an inversion in chromosome 17 resulting in two distinct haplotypes H1 and H2. Studies described a significant association of MAPT H1j subhaplotype with PD risk, while H2 haplotype was associated with Parkinsonism, particularly to its bradykinetic component. Secretase inhibitor We report here an isolated case displaying an akinetic-rigid form of PD, with age of onset of 41 years and a good response to levodopa, who developed dementia gradually during the seven years of disease progression. The patient does not carry the LRRK2 G2019S mutation, copy number variations, nor pathogenic and rare variants in known genes associated with PD.
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