Abstract:
BACKGROUND:Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying feature. The etiology of FADS is heterogeneous and mostly still unknown. A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology. However, the recent advances of next-generation sequencing (NGS) can effectively provide a definitive molecular diagnosis. CASE SUMMARY:A fetus presented after 24 wk and 6 d of gestation with absent fetal movements and multiple abnormal ultrasonographic signs. The mother had had a previous abortion due to a similarly affected fetus a year before. A clinical diagnosis of FADS was made. The parents refused cord blood examination and chose abortion. A molecular diagnosis of fetal muscle using NGS of genes found a compound heterozygous mutation in the MUSK gene: c.220C > T (chr9: 113449410 p.R74W) and c.421delC (chr9: 113457745 p.P141fs). CONCLUSION:To our knowledge, this is the first report in China showing that a mutation in MUSK is associated with FADS. This supports previous finding that a lethal mutation of MUSK will cause FADS. A precise molecular diagnosis for genetic counseling and options for a prenatal diagnosis of FADS are very important, especially for recurrent FADS; this may also provide evidence for both prenatal and preimplantation genetic diagnoses.
journal_name
World J Clin Casesjournal_title
World journal of clinical casesauthors
Li N,Qiao C,Lv Y,Yang T,Liu H,Yu WQ,Liu CXdoi
10.12998/wjcc.v7.i21.3655subject
Has Abstractpub_date
2019-11-06 00:00:00pages
3655-3661issue
21issn
2307-8960journal_volume
7pub_type
abstract:BACKGROUND:Ovarian tumors are common gynecological diseases in children, and the most commonly seen ovarian tumors are germ cell tumors. Robotic surgery is the new access for children ovarian tumors. CASE SUMMARY:From June to October 2017, 4 children with ovarian tumors were admitted and treated in the Department of P...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i17.2542
更新日期:2019-09-06 00:00:00
abstract:BACKGROUND:Endoscopic submucosal dissection (ESD) has been advocated by digestive endoscopists because of its comparable therapeutic effect to surgery, reduced trauma, faster recovery, and fewer complications. However, ESD for lesions of the duodenum is more challenging than those occurring at other levels of the gastr...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v8.i24.6296
更新日期:2020-12-26 00:00:00
abstract:BACKGROUND:Systemic amyloidosis in which multiple systems can be involved has become a common clinical disease. When the liver is affected, symptoms such as abdominal distension, fatigue, edema, liver, and jaundice could appear. To date, hepatic amyloidosis combined with hepatic venular occlusive disease and Budd-Chiar...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i20.3282
更新日期:2019-10-26 00:00:00
abstract:BACKGROUND:We analyzed the main features of an infant diagnosed with temporary neonatal cyanosis in order to strengthen our understanding of the disease. CASE SUMMARY:We report a patient diagnosed with temporary neonatal cyanosis. The main clinical characteristics, gene mutation and treatment are discussed and a revie...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i1.217
更新日期:2020-01-06 00:00:00
abstract::The prevalence of nasopharyngeal carcinoma (NPC) is higher in southern China, Hong Kong, and Taiwan than in other areas in the world. Radiotherapy is an important part of treatment for NPC patients, especially those with stage III/IV disease. Subdural empyema is a rare but life-threatening complication in postradiothe...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v6.i14.825
更新日期:2018-11-26 00:00:00
abstract:BACKGROUND:Spontaneous peritonitis is one of the most common infectious complications in cirrhotic patients with ascites. Spontaneous fungal peritonitis (SFP) is a type of spontaneous peritonitis that is a less recognized but devastating complication in end-stage cirrhosis. Although high mortality was previously noted,...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v7.i17.2438
更新日期:2019-09-06 00:00:00
abstract:BACKGROUND:Unilateral exophthalmos is often caused by inflammation, neoplasm, infection, metabolic disease, vascular disorder and several other less common conditions. Reflex sympathetic dystrophy related to unilateral exophthalmos has not been reported in the past literature. CASE SUMMARY:We describe a 45-year-old fe...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i2.318
更新日期:2020-01-26 00:00:00
abstract::We describe the case of a 67-year-old woman with L5-S1 ontogenetic spondylolisthesis treated with pedicle fixation associated with interbody arthrodesis performed with S1-L5 trans-sacral screwing according to the technique of Bartolozzi. The procedure was followed by a wide decompressive laminectomy. The patient had a...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v1.i3.116
更新日期:2013-06-16 00:00:00
abstract:BACKGROUND:Surgical treatment for large carotid body tumor (CBT), particularly the Shamblin III type, is challenging and rarely reported. CASE SUMMARY:In July 2014, a 63-year-old woman presented to our hospital with a large CBT (130 mm × 60 mm × 70 mm). The lesion was hypervascular, spanned from the first to the seven...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i16.2346
更新日期:2019-08-26 00:00:00
abstract:BACKGROUND:Thrombotic thrombocytopenic purpura (TTP), a subtype of thrombotic microangiopathy, has a very high fatality rate if there is no timely diagnosis or treatment. Here, we report a case of TTP refractory to high displacement plasma exchange, which was later successfully treated with rituximab. CASE SUMMARY:Her...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i12.2617
更新日期:2020-06-26 00:00:00
abstract::Autoimmune encephalitis is a poorly understood condition that can present with a combination of neurological and psychiatric symptoms, either of which may predominate. There are many autoantibodies associated with a variety of clinical syndromes - anti-N-Methyl-D-Aspartate receptor (NMDAR) is the commonest. Currently,...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v4.i8.223
更新日期:2016-08-16 00:00:00
abstract::Idiopathic granulomatous mastitis is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The most common clinical presentation is an unilateral, discrete breast mass, nipple retraction and even a sinus formation often associated with an inflammation of the ...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v2.i12.852
更新日期:2014-12-16 00:00:00
abstract:BACKGROUND:Collagen proportionate area (CPA) is an important index for assessing the severity of liver fibrosis. Budd-Chiari syndrome can frequently progress to liver fibrosis and cirrhosis. CPA might play an important role in the pathological progress of Budd-Chiari syndrome. AIM:To explore the role of CPA in predict...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v7.i2.130
更新日期:2019-01-26 00:00:00
abstract:BACKGROUND:Breast cancer (BCa) is one of the most common malignancies in women; however, ureteral metastasis of BCa has rarely been reported in the literature. CASE SUMMARY:A 55-year-old Chinese woman with an 8-year history of BCa presented with lower back pain that had persisted for 3 mo. The patient underwent bilate...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i20.3347
更新日期:2019-10-26 00:00:00
abstract:BACKGROUND:In most cases, it is not difficult to differentiate common bile duct (CBD) stone from Ascaris infection because they are different disease entities and have different imaging findings. The two diseases usually demonstrate unique characteristic findings on computed tomography or magnetic resonance cholangiopa...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i19.4499
更新日期:2020-10-06 00:00:00
abstract::Subcutaneous panniculitis-like T cell lymphoma (SPTCL) is a very rare variant of non-Hodgkin's lymphoma. Currently, there is no standard imaging method for staging of SPTCL nor for assessment of treatment response. Here, we describe our use of fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography/computed ...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v4.i9.258
更新日期:2016-09-16 00:00:00
abstract::We report a case of a 50-year-old malnourished African American male with hiccups, nausea and vomiting who was brought to the Emergency Department after repeated seizures at home. Laboratory evaluations revealed sodium (Na(+)) 107 mmol/L, unmeasurably low potassium, chloride < 60 mmol/L, bicarbonate of 38 mmol/L and s...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v1.i5.155
更新日期:2013-08-16 00:00:00
abstract::Marjolin's ulcer (MU) represents malignant degeneration that typically ensues over a period of time in the post-burned lesions and scars or any other chronic wound. This review highlights various facets of the presentation and management of MUs that originate from post-burned lesions. The incidence of MUs in such lesi...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v2.i10.507
更新日期:2014-10-16 00:00:00
abstract:BACKGROUND:Pancreatic cancer has a poor prognosis; 40%-50% of patients have liver metastases at the time of initial diagnosis and only 15%-20% undergo surgical resection. Irreversible electroporation (IRE) is a new, non-thermal local ablation method for solid tumors, which can induce cell membrane permeabilization, res...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i2.390
更新日期:2020-01-26 00:00:00
abstract::We report the case of a 56-year-old woman with pancreatic adenocarcinoma (PA) discovered during an episode of febrile jaundice. A computed tomography (CT) scan showed a mass in the head of the pancreas with circumferential infiltration of the superior mesenteric vein (SMV) and dilatation of the biliary and pancreatic ...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v6.i8.214
更新日期:2018-08-16 00:00:00
abstract:BACKGROUND:Gastro-esophageal reflux disease (GERD) is a serious health and social problem leading to a considerable decrease in the quality of life of patients. Among the risk factors associated with reflux symptoms and that decrease the quality of life are stress, overweight and an increase in body weight. The concept...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v7.i12.1421
更新日期:2019-06-26 00:00:00
abstract:BACKGROUND:Mitochondrial diseases are a heterogenous group of multisystemic disorders caused by genetic mutations affecting mitochondrial oxidation function. Brain involvement is commonly found in most cases but rarely as the unique clinical manifestation. Since the knowledge of its clinical manifestation combined with...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i9.1066
更新日期:2019-05-06 00:00:00
abstract:BACKGROUND:Distant metastasis, particularly visceral metastasis (VM), represents an important negative prognostic factor for prostate cancer (PCa) patients. However, due to the lower rate of occurrence of VM, studies on these patients are relatively rare. Consequently, studies focusing on prognostic factors associated ...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v8.i1.54
更新日期:2020-01-06 00:00:00
abstract:BACKGROUND:Afferent loop syndrome (ALS) is a rare mechanical complication that occurs after reconstruction of the stomach or esophagus to the jejunum, such as Billroth II gastrojejunostomy, Roux-en-Y gastrojejunostomy, or Roux-en-Y esophagoje-junostomy. Traditionally, an operation is the first choice for benign causes....
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i21.5353
更新日期:2020-11-06 00:00:00
abstract::Chronic lymphocytic leukemia (CLL) is the most common leukemia in the western world. Despite significant advances in therapy over the last decade CLL remains incurable. Current front-line therapy often consists of chemoimmunotherapy-based regimens, most commonly the fludarabine, cyclophosphamide plus rituximab combina...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v3.i8.694
更新日期:2015-08-16 00:00:00
abstract::We describe clinical, diagnostic features and follow up of a patient with a vanishing brain lesion. A 14-year-old child admitted to the department of Neurology at September 2009 with a history of subacute onset of fever, anorexia, vomiting, blurring of vision and right hemiparesis since one month. Magnetic resonance i...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v3.i11.956
更新日期:2015-11-16 00:00:00
abstract::The gold standard of peripheral nerve repair is nerve autograft when tensionless repair is not possible. Use of nerve autograft has several shortcomings, however. These include limited availability of donor tissue, sacrifice of a functional nerve, and possible neuroma formation. In order to address these deficiencies,...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v3.i2.141
更新日期:2015-02-16 00:00:00
abstract::Acute on chronic liver failure (ACLF) is rarely the initial manifestation of a malignant process or precipitated by the initiation of anti-viral treatment with a nucleoside or nucleotide agent. We report an unusual case of ACLF temporally associated with initiation of Entecavir for treatment of chronic hepatitis B. Ea...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v1.i1.37
更新日期:2013-04-16 00:00:00
abstract:BACKGROUND:In December 2019, the first patient with 2019-novel coronavirus (2019-nCoV) was reported in Wuhan, China, and the disease spread rapidly across the country and surrounding countries within 2 mo. As of February 29, 2020, a total of 91 confirmed cases had been reported in Gansu Province. This case report of th...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i17.3903
更新日期:2020-09-06 00:00:00
abstract::Although Kaposi sarcoma (KS) has been more traditionally considered an AIDS-defining illness, it may also be seen in individuals on immunosuppresive therapy. We report a case of a patient who presented to the hospital in the setting of increasingly refractory ulcerative colitis. Computed tomography scan of the abdomen...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v5.i12.423
更新日期:2017-12-16 00:00:00