Intraosseous Neurilemmomas are very rare tumor and most of them are arose in the mandibular bone. A case report is made on the intraosseous neurilemmoma in the distal shaft of tibia which belong very rarely seen in the area of bone. The case was a 23 year old male who had multicystic lesion on the distal shaft of right tibia with marginal this sclerotic change on the radiological examination. The lesion of intraosseous neurilemmoma was confirmed by the microscopic examination after surgical treatment of curettage and bone graft. Also a review of literature on the neurilemmoma was made and reported.
Curettage ; Humans ; Male ; Neurilemmoma ; Tibia ; Transplants

The survival rate and motility recovered after cryopreservation of testicular spermatozoa in testicular sperm extraction (TESE)-ICSl program is low. The purpose of this study was to assess the availability and efficiency of mouse empty zona pellucida in cryopreserving human TESE spermatozoa. Mouse empty zonae pellucidae were obtained by extraction of cytoplasm with or without cytochalasin B treatment. Motile sperm from proven-fertile donor and two azoospermic patients after TESE were individually inserted into empty zona pellucida and cryopreserved. Two to five days after cyropreservation, the frozen sperm were thawed and the rates of recovery and motility were observed. The ooplasmic extraction rates of control (N=80) and cytochalasin B treated oocytes (N=80) were 94.0% and 96.2%, respectively (p>0.05). The post-thaw recovery rates of spermatozoa and rates of motility recovery of ejaculate (N=70) and testicular (N=70) sperm were 97.1%, 97.1% and 95.7%, 94.3%, respectively (p>0.05). The results of this study showed that the mouse zone pellucida is useful for cryostorage of single testicular spermatozoa.
Animals ; Cryopreservation* ; Cytochalasin B ; Cytoplasm ; Herpes Zoster* ; Humans ; Mice* ; Oocytes ; Sperm Injections, Intracytoplasmic* ; Spermatozoa* ; Survival Rate ; Tissue Donors ; Zona Pellucida*

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.

Liver infarction and acrodermatitis enteropathica are rare complications of chronic pancreatitis. This report shows the case of a 56-year-old man who developed liver infarction due to portal vein thrombosis from chronic pancreatitis and acrodermatitis enteropathica during the course of his treatment. The rare combination of these complications in a patient with chronic pancreatitis has never previously been reported in the literature.
Acrodermatitis/*etiology/pathology/therapy ; Chronic Disease ; Human ; Infarction/*etiology ; Liver/*blood supply ; Male ; Middle Aged ; Pancreatitis/*complications ; Portal Vein ; Venous Thrombosis/complications/etiology ; Zinc/administration & dosage/deficiency

PURPOSE: Lymphoma originated from mucosa associated lymphoid tissue(MALT) is most common in gastrointestinal system, and rarely found in salivary gland, thyroid, bronchus or orbit. We experienced a case of MALT lymphoma which was originated from conjunctiva and involving lower eyelid without metastasis. METHODS: A 40-year-old man suffered palpable mass on right lower eyelid without pain. Orbital computed tomographic and ultrasonographic findings showed a conical mass(1.9x1.2x0.9cm size) inside lower eyelid. The mass was completely excised under local anesthesia and histopathological examination was followed. RESULTS: Microscopic finding showed a multiple follicular colonization. In the follicle, small lymphocytes and plasma cells differentiated to centrocyte-like cell, monocyte B cell, plasma cell were diffusely infiltrated. Immunophenotyping was preformed on fixed section. The majority of the small cells were immunoreactive for the B cell marker CD20. Based on the typical histological findings supported by immunostaining, the mass was defined as MALT lymphoma. After excision, SPECT, abdominal CT was carried out and there were no evidence of extraorbital disease. CONCLUSION: Biopsy and pathological examination should be performed in patients who complain palpable mass on lower eyelid because of possibility of MALT lymphoma. Although MALT lymphoma is rarely metastasized, it is necessary to evaluate the extraorbital involvement using SPECT or other radiologic exams. For detecting extraorbital involvement, periodic follow-up examination is need.
Adult ; Anesthesia, Local ; Biopsy ; Bronchi ; Colon ; Conjunctiva ; Eyelids ; Follow-Up Studies ; Humans ; Immunophenotyping ; Lymphocytes ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone ; Monocytes ; Mucous Membrane ; Orbit ; Plasma Cells ; Salivary Glands ; Thyroid Gland ; Tomography, Emission-Computed, Single-Photon

Catamenial hemoptysis is syndrome characterized by bleeding from the bronchial trees and lungs that occurs synchronously with the female menstrual cycle. Etiologic mechanism of pulmonary endometriosis is still controversial, and the diagnosis is usually made on the basis of the clinical history and exclusion of other causes of recurrent hemoptysis. Serial computed tomograms of the chest during and in the interval between menstruations have been proved to be a useful confirmatory test. We experienced a 33-year-old female patient who had been previously diagnosed as pelvic endometriosis pathologically, experienced cyclic hemoptysis during menstruations. The diagnosis of pulmonary endometriosis was made based on her history and changes in the character of the lesions as documented on radiologic studies of the chest. She was treated successfully with GnRH analogue and there is no evidence of recurrence.
Female ; Humans

Xanthogranulomatous cholecystitis (XGC) is a rare inflammatory disease of the gallbladder. Not only does XGC occasionally present as a mass formation with adjacent organ invasion like a malignant neoplasm, it can also infrequently be associated with gallbladder cancer. In the situation, it is difficult to make a differential diagnosis between the diseases. Here, we describe a case of a simultaneous XGC and a carcinoma of the gallbladder in a 61-year-old woman. To the best of our knowledge, there are only a small number of reports on this combination of diseases.
Adenocarcinoma/complications/diagnosis/*pathology/surgery ; Biopsy, Needle ; Cholangiopancreatography, Endoscopic Retrograde ; Cholecystitis/complications/diagnosis/*pathology/surgery ; Endosonography ; Female ; Gallbladder Neoplasms/complications/diagnosis/*pathology/surgery ; Granuloma/complications/diagnosis/*pathology ; Humans ; Immunohistochemistry ; Middle Aged ; Neoplasm Staging ; Prognosis ; Risk Assessment ; Tomography, X-Ray Computed ; Xanthomatosis/complications/diagnosis/*pathology

Extraskeletal Ewing's sarcomas (EES) are rare. Recently, Ewing's sarcoma of the bone, primitive neuroectodermal tumor (PNET), Askin tumor and EES have been included into the family of Ewing's tumors, due to the overlapping features relating to their clinico-pathological and cytogenetic appearance. We experienced a case of an EES arising from the duodenum in a 14-year-old girl who presented with hematemesis and epigastric discomfort. A duodenal biopsy specimen revealed the infiltration of small round cells and rich vasculatures, with immunohistochemical finding of MIC-2 (CD99) (+), vimentin (+), CD56 (NCAM) (+), LCA (-), T-cell (-), B-cell (-), CD43 (-) and CD68 (-). She was treated with several cycles of multiagent chemotherapy, and achieved an initial partial response, but rapid progression of tumor followed, so she was treated with surgical excision. This is the first case report of an EES arising from the duodenum in the literature.
Adolescent ; B-Lymphocytes ; Biopsy ; Cytogenetics ; Drug Therapy ; Duodenum* ; Female ; Hematemesis ; Humans ; Neuroectodermal Tumors, Primitive ; Sarcoma ; Sarcoma, Ewing* ; T-Lymphocytes ; Vimentin