Abstract:
INTRODUCTION:Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease's spectrum. CASE PRESENTATION:The affected newborn has no spontaneous movement, fractures at birth and respiratory insufficiency. The present case was a Thai male, floppy at birth with fractures of both humeri and femurs and ventilator-dependent respiration. The patient developed bilateral chylothorax two weeks later and died at the age of 6 weeks. Whole-body postmortem examination with informed consent and genetic analysis of ACTA1 mutation were performed. A skeletal muscle biopsy examined by light and transmission electron microscopy showed the features of nemaline myopathy. ACTA 1 heterozygous missense mutation (c.1127G > C) was identified. Histological examination of both lungs revealed primary pulmonary lymphangiectasia. CONCLUSION:To the best of our knowledge, congenital nemaline myopathy with primary pulmonary lymphangiectasia causing bilateral chylothrax has never been previously reported. Considering chylothorax as a poor prognostic index and an unusual clinical presentation of severe congenital NM are proposed. VIRTUAL SLIDES:The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9710506431489501 .
journal_name
Diagn Patholjournal_title
Diagnostic pathologyauthors
Waisayarat J,Suriyonplengsaeng C,Khongkhatithum C,Rochanawutanon Mdoi
10.1186/s13000-015-0270-8subject
Has Abstractpub_date
2015-04-16 00:00:00pages
27issn
1746-1596pii
10.1186/s13000-015-0270-8journal_volume
10pub_type
杂志文章,评审abstract:BACKGROUND:Mixed adeno-neuroendocrine carcinoma (MANEC) of the biliary tract is rare with only a few reported cases. Consequently, knowledge about their pathogenesis, histopathological characteristics and outcomes is sparce. CASE PRESENTATION:A 53-year old man presented with epigastric pain on a background of excessiv...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-015-0439-1
更新日期:2015-11-20 00:00:00
abstract::Primary neoplasms of the mesentery are very rare. They are usually of mesenchymal origin and include desmoid tumor, lipoma, liposarcoma, and fibrosarcoma. Metastatic carcinomas and lymphoma are more common. We report a rare case of localized mesenteric Castleman's disease, presenting as intestinal obstruction. Clinica...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-4-42
更新日期:2009-12-04 00:00:00
abstract:BACKGROUND:Primary non-Hodgkin lymphoma (NHL) of the breast represents 0.04-0.5% of malignant lesions of the breast and accounts for 1.7-2.2% of extra-nodal NHL. Most primary cases are of B-cell phenotype and only rare cases are of T-cell phenotype. Anaplastic large cell lymphoma (ALCL) is a rare T-cell lymphoma typica...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-4-11
更新日期:2009-04-02 00:00:00
abstract:BACKGROUND:The optimal course of clinical follow-up after a diagnosis of breast papillary lesion on a core needle biopsy (CNB) remains elusive. In particular, no reports in literature have addressed this question in African-American population. We describe our experience with breast papillary lesions in a primarily Afr...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-86
更新日期:2014-04-24 00:00:00
abstract:BACKGROUND:Rheumatoid Arthritis is a chronic disease leading to decreased quality of life with a rather variable response rate to Disease Modifying Anti Rheumatic Drugs. Methotrexate (MTX) is the gold standard therapy in Rheumatoid Arthritis. The Multidrug resistance Related Protein and Multi Drug Resistance protein 1,...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0447-1
更新日期:2015-12-30 00:00:00
abstract::Endometriosis is a clinical entity characterized by the presence of normal endometrial mucosa abnormally implanted in locations other than the uterine cavity. Endometriosis can be either endopelvic or extrapelvic depending on the location of endometrial tissue implantation. Despite the rarity of extrapelvic endometrio...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/1746-1596-8-194
更新日期:2013-12-02 00:00:00
abstract:BACKGROUND:Gastrointestinal stromal tumors (GISTs), a type of mesenchymal tumor in the gastrointestinal tract, are believed to be closely associated with PDGFRA and C-KIT mutations. Schwannoma in the stomach, which is an unusual location, is a rare disorder. The simultaneous occurrence of the two diseases is rarer than...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-019-0898-x
更新日期:2019-10-23 00:00:00
abstract::Cellular Angiofibroma (CA) represents a quite recently described mesenchymal tumour that occurs in both genders, in particular in the vulvo-vaginal region in women and in the inguino-scrotal area in men. The first description of this tumour dates from Nucci et al. article in 1997; since then, the literature reports di...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-015-0361-6
更新日期:2015-07-19 00:00:00
abstract:BACKGROUND:The outbreak of a novel coronavirus since December 2019, became an emergency of major international concern. As of June 21, 2020, the SARS-CoV-2 pandemic has caused 8,769,844 confirmed infections with 463,745 fatal cases worldwide. The SARS-CoV-2 outbreak is a major challenge for clinicians. In our clinic, w...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-020-00994-0
更新日期:2020-06-29 00:00:00
abstract:BACKGROUND:Automated image analysis enables quantitative measurement of steatosis in histological images. However, spatial heterogeneity of steatosis can make quantitative steatosis scores unreliable. To improve the reliability, we have developed novel scores that are "focused" on steatotic tissue areas. METHODS:Focus...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-018-0753-5
更新日期:2018-09-20 00:00:00
abstract:BACKGROUND:Prostate cancer patients with rectal involvement are rare, and the factors associated with the survival of these patients are yet to be elucidated. PATIENTS AND METHODS:We collected data on patients who were admitted to our hospital for prostate cancer in the last thirteen years and of those in studies in t...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-35
更新日期:2014-02-20 00:00:00
abstract:BACKGROUND:Chronic hepatitis B virus (HBV) infection is a known major etiological factor for hepatocellular carcinoma (HCC) development. Alpha-fetoprotein (AFP) is widely used to detect primary HCC, whereas its sensitivity and specificity are not satisfying. Recently, circulating microRNAs (miRNAs) have been reported t...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0369-y
更新日期:2015-07-28 00:00:00
abstract:BACKGROUND:Esophageal cancer is one of the leading causes of cancer related deaths among the Iranians. There is still a high ratio of mortality and low 5 years survival which are related to the late onset and diagnosis. Majority of patients refer for the treatment in advanced stages of tumor progression. MAIN BODY:It ...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-019-0875-4
更新日期:2019-08-31 00:00:00
abstract:BACKGROUND/OBJECTIVE:Metastatic adenocarcinoma from an unknown primary site is a common clinical problem. Determining the cytokeratin (CK) 7/CK20 pattern of tumors is one of the most helpful procedures for this purpose since the CK7-/CK20+ pattern is typical of colorectal adenocarcinomas. CDX2, a critical nuclear trans...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-9
更新日期:2012-01-23 00:00:00
abstract:BACKGROUND:Metastatic spread of tumor through lymphatic vasculature is an important adverse prognostic factor in a variety of human cancer and tumor lymphangiogenesis requires the interplay of several growth factors. Platelet-derived growth factor (PDGF)-BB and vascular endothelial growth factor (VEGF)-C are two import...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-128
更新日期:2014-06-27 00:00:00
abstract:BACKGROUND:Metadherin (MTDH) has been reported to be associated with cancer progression in various types of human cancers including breast cancer. Whether MTDH contributes to carcinogenesis of breast cancer is still unknown. In the present study, we investigated the expression of MTDH in normal, UDH (usual ductal hyper...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-5-38
更新日期:2010-06-18 00:00:00
abstract:BACKGROUND:Human kallikrein gene 6 (KLK6) is a member of the human kallikrein gene family (Kallikreins, KLKs). Human kallikrein-related peptidase 6 (hK6) is a trypsin-like serine protease encoded by the KLK6, has been reported to be highly expressed in several cancers including gastric cancer. In this study, we investi...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-8-62
更新日期:2013-04-15 00:00:00
abstract::A 42-year-old male presented right upper abdomen pain for more than 6 days, which misdiagnose calculus of intrahepatic duct and acute cholecystitis. An approximately 1.5 cm x 1.0 cm x 1.0 cm nodule was found and resected in left lateral lobe of hepatic. Pathological examination showed spindle cell and fibroblast -like...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/1746-1596-8-195
更新日期:2013-12-02 00:00:00
abstract::Telepathology, the practice of pathology at a long distance, has advanced continuously since 1986. Today, fourth-generation telepathology systems, so-called virtual slide telepathology systems, are being used for education applications. Both conventional and innovative surgical pathology diagnostic services are being ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-6-S1-S1
更新日期:2011-03-30 00:00:00
abstract:BACKGROUND:Intestinal metaplasia (IM) of the gastric mucosa is classified as complete (Type I) and incomplete IM (Type II and III) subtypes, which showed significantly different risk for developing to gastric adenocarcinoma (GAC). GCRG213, a variant of L1-endonuclease (L1-EN), first identified in our lab, was upregulat...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-019-0838-9
更新日期:2019-06-21 00:00:00
abstract::Primary pleural angiosarcoma is a rare and clinically aggressive tumor. Patients usually present with chest pain, dyspnea, hemoptysis and/or cough. Radiologic studies reveal diffuse pleural thickening and pleural effusion with or without mass lesion. The clinical and radiological features both resemble those of mesoth...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-6-130
更新日期:2011-12-30 00:00:00
abstract:BACKGROUND:Branchial cleft anomalies constitute a frequently encountered and commonly non-lethal disease in otolaryngology, and result from aberrant embryonic development. The third branchial cleft fistula is one of the four known specific types of branchial cleft anomalies, and always presents as recurrent neck absces...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-016-0540-0
更新日期:2016-09-15 00:00:00
abstract:BACKGROUND:Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this conditi...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-2-48
更新日期:2007-12-18 00:00:00
abstract:BACKGROUND:Pleomorphic xanthoastrocytoma is rare, accounting for <1 % of all central nervous system (CNS) neoplasms. Angiomatous pleomorphic xanthoastrocytoma is an extremely rare variant of pleomorphic xanthoastrocytoma, with only six cases reported thus far. CASE PRESENTATION:A 24-year-old Chinese female patient who...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-016-0524-0
更新日期:2016-08-09 00:00:00
abstract:UNLABELLED:Imaging appearance of cyst-like changes is most frequently described in primary neuroendocrine lesions, especially pancreatic NETs.The imaging finding of a pseudocystic lesion of the liver puts in differential diagnosis many pathologies such as infectious diseases, simple biliary cysts up to biliary cystaden...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/1746-1596-8-148
更新日期:2013-09-13 00:00:00
abstract:BACKGROUND:Fluorescence in situ hybridization (FISH) is one of the most powerful genetic analysis tools for pathological diagnoses. FISH can detect various genetic abnormalities including gene translocation that was specifically found in translocation-related sarcomas (TRSs). Here, we report the use of FISH in expert r...
journal_title:Diagnostic pathology
pub_type: 杂志文章,多中心研究
doi:10.1186/s13000-016-0486-2
更新日期:2016-04-12 00:00:00
abstract:UNLABELLED:Giant cell angioblastoma (GCAB) is an extremely rare soft tissue tumor of early childhood and only five cases have been described to date. As such the clinical, pathological, and prognostic features are poorly defined. We prensent here a new case of GCAB in bone of a child aged 4-years old. The lesion was co...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-113
更新日期:2012-08-29 00:00:00
abstract::Cutaneous apocrine carcinoma (AC) is a rare adnexal neoplasm that histologically can mimic breast carcinoma metastatic to the skin or apocrine carcinoma arising in ectopic breast tissue. As extremely rare condition, neuroendocrine differentiation may be observed in AC although its etiology and pathogenesis is still un...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0302-4
更新日期:2015-06-10 00:00:00
abstract:BACKGROUND:This study is to investigate the expression of progranulin (PGRN) in systemic lupus erythematosus (SLE) patients and the effect of glucocorticoid (GC) treatment on its expression. METHODS:Thirty newly diagnosed severe SLE patients and 30 healthy subjects were enrolled in this study. The serum levels of PGRN...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-8-88
更新日期:2013-05-23 00:00:00
abstract:BACKGROUND:Mesonephric-like adenocarcinoma (M-LAC) is a rare, recently described tumor occurring in the uterine corpus and ovary, which shares the same morphological and immunohistochemical features with the more common mesonephric adenocarcinoma (MAC), which mostly arises the uterine cervix. Despite the similarities b...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-020-01012-z
更新日期:2020-07-21 00:00:00