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Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely encountered in the Chinese mainland.

A 22-year-old male presented with complaints of progressive myoclonus, ataxia and slurred speech, without visual symptoms; the presenting symptoms began at the age of 15-year-old. Whole exome sequencing revealed two pathogenic heterozygous missense variants [c.239C>T (p.P80L) and c.544A>G (p.S182G) in the neuraminidase 1 (NEU1) gene], both of which have been identified previously in Asian patients with type 1 sialidosis. https://www.selleckchem.com/products/pkm2-inhibitor-compound-3k.html All three patients identified in Mainland China come from three unrelated families, but all three show the NEU1 mutations p.S182G and p.P80L pathogenic variants. Increasing sialidase activity through chaperones is a promising therapeutic target in sialidosis.

Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis, we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.

Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis, we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.

Hematopoietic stem cell transplantation (HSCT) is widely used in the treatment of hematological diseases. However, complications after transplantation, such as acute and chronic graft-

-host disease (GVHD), still seriously affect the quality of life and even threaten the lives of patients. There is evidence that glomerular diseases can manifest as GVHD. However, GVHD should not occur as a result of syngeneic HSCT.

A 20-year-old male diagnosed with T lymphoblastic lymphoma (stage IIIA, aaIPI 1) in September 2013 was treated with six cycles of hyper-CVAD and achieved complete remission. He underwent syngeneic HSCT in June 2014, and had no kidney disease history before the transplant. However, nephrotic syndrome occurred 24 mo later in the patient after syngeneic HSCT. Renal biopsy was performed, which led to a diagnosis of atypical membranous nephropathy. After treatment with glucocorticoids combined with cyclophosphamide and cyclosporine, the nephrotic syndrome was completely relieved.

We report a case of delayed nephrotic syndrome after syngeneic HSCT. Antibody-mediated autoimmune glomerular disease may be the underlying mechanism. After treatment with immunosuppressive agents, the nephrotic syndrome was completely relieved but further long-term follow-up is still needed.

We report a case of delayed nephrotic syndrome after syngeneic HSCT. Antibody-mediated autoimmune glomerular disease may be the underlying mechanism. After treatment with immunosuppressive agents, the nephrotic syndrome was completely relieved but further long-term follow-up is still needed.

Microcystic adnexal carcinoma (MAC) is a rare malignant tumor of the skin that is commonly found on the face. It grows slowly and has a low mortality rate. However, for various reasons, including strong histological invasiveness, clinical inexperience and inadequate procedure design, immediate or permanent facial deformity may occur after surgical operations.

This article describes a middle-aged female artist who was diagnosed with MAC on the left upper lip. She declined the recommended treatment plan, which included two-stage reconstruction, skin grafting, or surgery that could have resulted in obvious facial dysfunction or esthetic deformity. We accurately designed a personalized procedure involving a "jigsaw puzzle advancement flap" for the patient based on the lesion location and the estimated area of skin loss. The procedure was successful; both pathological R0 resection and immediate and long-term esthetic reconstruction effects were achieved.

This study suggests that when treating facial MAC or other skin malignancies, a surgical team should have sufficient plastic surgery-related knowledge and skills. An optimal surgical plan for an individual is needed to achieve good facial esthetics and functional recovery and shorten the treatment course.

This study suggests that when treating facial MAC or other skin malignancies, a surgical team should have sufficient plastic surgery-related knowledge and skills. An optimal surgical plan for an individual is needed to achieve good facial esthetics and functional recovery and shorten the treatment course.

Peripherally inserted central catheters (PICCs) have been increasingly applied worldwide owing to many advantages. Even with these advantages, the related complications should not be ignored, especially in neonates. The available evidence about PICC-related thrombosis was manifold, but the cardiac tamponade, an emergency and life-threatening complication, has been rarely reported. Early recognized cardiac tamponade by ultrasound may reduce mortality.

A neonate weighting 2.8 kg was born at 40 wk of gestation. He was admitted to the Surgery Intensive Care Unit due to suspected congenital megacolon. A PICC line was inserted via the left antecubital fossa for the administration of total parenteral nutrition. Three days later, the patient was still on total parenteral nutrition. Cardiac tamponade caused by PICC was found on ultrasound. The patient recovered spontaneously after an emergency pericardiocentesis.

Proficiency in the use of point-of-care ultrasound may save the life of patients, since it enables clinicians to treat patients faster, more accurately, and in a non-invasive way at the point of care.

Proficiency in the use of point-of-care ultrasound may save the life of patients, since it enables clinicians to treat patients faster, more accurately, and in a non-invasive way at the point of care.

Lung cancer is a major cause of death among patients, and non-small cell lung cancer (NSCLC) accounts for more than 80% of all lung cancers in many countries.

To evaluate the clinical benefit (CB) of COX-2 inhibitors in patients with advanced NSCLC using systematic review.

We searched the six electronic databases up until December 9, 2019 for studies that examined the efficacy and safety of the addition of COX-2 inhibitors to chemotherapy for NSCLC. Overall survival (OS), progression free survival (PFS), 1-year survival rate (SR), overall response rate (ORR), CB, complete response (CR), partial response (PR), stable disease (SD), and toxicities were measured with more than one outcome as their endpoints. Fixed and random effects models were used to calculate risk estimates in a meta-analysis. Potential publication bias was calculated using Egger's linear regression test. Data analysis was performed using R software.

The COX-2 inhibitors combined with chemotherapy were not found to be more effective than chemotherapy alone in OS, progression free survival, 1-year SR, CB, CR, and SD.