Project description:Large-scale transcriptome and methylome data analyses obtained by high-throughput technologies have been enabling the identification of novel imprinted genes. We investigated genome-wide DNA methylation patterns in multiple human tissues, using a high-resolution microarray to uncover hemimethylated CpGs located in promoters overlapping CpG islands, aiming to identify novel candidate imprinted genes. Using our approach, we recovered ~30% of the known human imprinted genes, further 168 candidates were identified, 61 of which with at least three hemimethylated CpGs shared by more than two tissue types. Thirty-four of these candidate genes are members of the protocadherins cluster on 5q31.3; in mice, protocadherin genes have non-imprinted monoallelic randomic expression, which might be the case in humans. Among the remaining 27 genes, ZNF331 was recently validated as an imprinted gene, and six of them have been reported as candidates, supporting our prediction. Five candidates (CCDC166, ARC, PLEC, TONSL and VPS28) map to 8q24.3, and might constitute a novel imprinted cluster. Additionally, we performed a comprehensive compilation of known human and mice imprinted genes from literature and databases, and a comparison among high-throughput imprinting studies in humans. The screening for hemimethylated CpGs shared by multiple human tissues, together with the extensive review, appears as a useful approach to reveal candidate imprinted genes.
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:BACKGROUND:Spinal epidural hematoma without significant trauma is a rare condition with potentially severe outcome. This case report and systematic review of the literature illustrates the clinical presentation, risk factors, evaluation, treatment and outcomes of spinal epidural hematoma without significant trauma in children. CASE PRESENTATION:We report one case of a 7-year-old girl who developed a neck pain after minor cervical sprain. MRI showed a right posterior epidural hematoma extending from C2/3 to T1. The hematoma was surgically evacuated, and the histopathology showed an arteriovenous malformation. Postoperative MRI showed complete evacuation of the hematoma and no residual vascular malformation. We report a second ASE with idiopathic spinal epidural hematoma of a 4½-year-old boy presenting with neck pain. MRI showed a right-sided latero-posterior subacute spinal epidural hematoma at C3-C5. Owing to the absence of any neurological deficit, the patient was treated conservatively. MRI at 3?months showed complete resolution of the hematoma. CONCLUSIONS:Spinal epidural hematoma without significant trauma in children is a rare condition. It may present with unspecific symptoms. Screening for bleeding diathesis is warranted and neuroradiologic follow-up is essential to rule out vascular malformation. Whereas most children have a favorable outcome, some do not recover, and neurological follow-up is required.
Project description:BackgroundEven though remarkable progress for diagnostics of pulmonary TB has been made, it is still a challenge to establish a definitive diagnosis for extrapulmonary TB (EPTB) in clinical practice. Among all the presentations of EPTB, cold abscesses are unusual and deceptive, which are often reported in the chest wall and spine. Subcutaneous abscess in the connective tissue of limbs is extremely rare.Case presentationA 48-year-old man with dermatomyositis was hospitalized because of multiple subcutaneous tuberculous abscesses in his limbs, but without pulmonary tuberculosis. Particularly, one insidious abscess appeared during anti-TB treatment due to “paradoxical reaction”. After routine anti-TB therapy, local puncture drainage and surgical resection, the patient was cured and discharged.ConclusionsTuberculous infection should be kept in mind for the subcutaneous abscess of immunocompromised patients, even without previous TB history. Treatment strategy depends on the suppurating progress of abscess lesions. Meanwhile, complication of newly-developed insidious abscess during treatment should be vigilant.
Project description:Angiosarcoma (AS) is a rare and aggressive vascular neoplasm with very poor prognosis. Patients with extensive cutaneous AS who are not surgical candidates have very limited options since there is no standard treatment. Treatment options include radiation, chemotherapy, and angiogenesis inhibitor with varying success rates. Here, we report a case an 88 year old patient with extensive scalp angiosarcoma having biopsy proven remission with bevacizumab and radiotherapy without undergoing surgery.
Project description:Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large subunit of microsomal triglyceride transfer protein (MTP; OMIM 157147). To date at least 33 MTP mutations have been identified in 43 ABL patients. We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for prevention of cardiovascular disease, defining the long-term clinical features of patients with a natural deficiency in MTP might provide some insight into the possible effects of such treatments. We review the range of clinical, biochemical and molecular perturbations in ABL.
Project description:Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. Up to 74% of patients with AHC have a pathologic variant in the ATP1A3 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of ATP1A3-related disorders. Herein, we report the first case of AHC in Korea. A 33-year-old man visited our hospital with recurrent hemiplegic and dystonic episode after his first birthday. He was completely normal between episodes and did not have any ataxia, but brain magnetic resonance imaging showed cerebellar atrophy. He also had pes planovalgus deformity. Whole exome sequencing revealed a heterozygous G947R variant in the ATP1A3 gene (c.2839G > C, rs398122887), which is a known pathologic variant. This atypical case of AHC demonstrates the importance of the clinical approach in diagnosing ATP1A3-related disorders.
Project description:Most schistosomiasis japonica cerebral granulomas reported in the literature have been single and located in the cerebellum, and multiple lesions located in the cerebral hemisphere are uncommon and often misdiagnosed as metastases or gliomas. We describe two rare cases of multiple schistosomiasis japonica cerebral granulomas. Laboratory examinations and cerebrospinal fluid were normal. Parasite eggs were not detected in the stool. No positive findings were detected in the abdominal ultrasonography or chest radiography. Magnetic resonance revealed two intensive patchy lesions in the cerebral hemisphere and surrounded by a large area of edema in both of our patients. Both were misdiagnosed as glioma or metastatic carcinoma before operation. Pathological examination confirmed that the diagnosis was schistosomiasis japonica cerebral granuloma. Praziquantel and dexamethasone were administered. Both patients are alive, symptom-free, and without evidence of recurrence. Combining our date with other literature reports, we summarize the possible mechanism, reasons for misdiagnosis, radiological characteristics, surgical treatment, and postoperative management of schistosomiasis japonica cerebral granuloma, which can be used for clinical reference and to improve our knowledge of schistosomiasis japonica cerebral granuloma.
Project description:Achalasia cardia is an idiopathic disease that occurs as a result of inflammation and degeneration of myenteric plexi leading to the loss of postganglionic inhibitory neurons required for relaxation of the lower esophageal sphincter and peristalsis of the esophagus. The main symptoms of achalasia are dysphagia, regurgitation, chest pain and weight loss. At present, there are three main hypotheses regarding etiology of achalasia cardia which are under consideration, these are genetic, infectious and autoimmune. Genetic theory is one of the most widely discussed. Case report given below represents an inheritable case of achalasia cardia which was not diagnosed for a long time in an 81-year-old woman and her 58-year-old daughter.