GLUTAMIC OXALACETIC TRANSAMINASE ACTIVITY IN THE SERUM IN MUSCULAR DYSTROPHY AND OTHER NEUROMUSCULAR DISORDERS IN CHILDHOOD

PEDIATRICS ◽  
1958 ◽  
Vol 22 (6) ◽  
pp. 1110-1114
Author(s):  
E. G. Murphy ◽  
Morris M. Cherniak
Keyword(s):  
Muscular Dystrophy ◽  
Normal Values ◽  
Advanced Disease ◽  
Neuromuscular Disorders ◽  
Transaminase Activity ◽  
Older Children ◽  
Younger Child ◽  
Glutamic Oxalacetic Transaminase ◽  
Small Series ◽  
Group A

Serum activities of the enzyme glutamic oxalacetic transaminase were measured in 57 infants and children with various neuromuscular disorders. High values were obtained in 20 out of 32 patients with the Duchenne type of muscular dystrophy. The 12 cases with normal or borderline activities were mainly older children usually with advanced disease. Of the 10 patients with other varieties of muscular dystrophy, all but one had normal values. Normal values were invariably present in primary neuropathies. In the polymyositic group a small series of five cases had normal or borderline activities. The measurement of activity of this enzyme in the serum is a useful diagnostic aid in neuromuscular disorders, particularly in the younger child.

The Effect of Oral Ethanol on Glutamic Pyruvic and Glutamic Oxalacetic Transaminase Activity in the Rat Liver

1958 ◽  
Vol 19 (1) ◽  
pp. 54-68 ◽  
Author(s):  
Keith S. Henley ◽  
Hugh S. Wiggins ◽  
Basil I. Hirschowitz ◽  
H. Marvin Pollard
Keyword(s):  
Rat Liver ◽  
Transaminase Activity ◽  
Glutamic Oxalacetic Transaminase

scholarly journals Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 349
Author(s):  
Sholeh Bazrafshan ◽  
Hani Kushlaf ◽  
Mashhood Kakroo ◽  
John Quinlan ◽  
Richard C. Becker ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Electronic Medical Records ◽  
Cardiac Disease ◽  
Medical Records ◽  
Care Center ◽  
Neuromuscular Disorders ◽  
Next Generation Sequencing Data ◽  
Comparative Genomic ◽  
Genetic Modifiers ◽  
Cardiac Phenotype

Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied. To determine genetic modifiers and features of cardiac disease in NMD patients, we have reviewed electronic medical records of 651 patients referred to the Muscular Dystrophy Association Care Center at the University of Cincinnati and characterized the clinical phenotype of 14 patients correlating with their next-generation sequencing data. The data were retrieved from the electronic medical records of the 14 patients included in the current study and comprised neurologic and cardiac phenotype and genetic reports which included comparative genomic hybridization array and NGS. Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, COL6A3, SGCA, SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients. Our observations suggest that features of cardiac disease and modifying gene mutations in patients with NMD require further investigation to better characterize genotype–phenotype relationships.

scholarly journals MiRNAs and Muscle Regeneration: Therapeutic Targets in Duchenne Muscular Dystrophy

2021 ◽  
Vol 22 (8) ◽  
pp. 4236
Author(s):  
Amelia Eva Aránega ◽  
Estefanía Lozano-Velasco ◽  
Lara Rodriguez-Outeiriño ◽  
Felicitas Ramírez de Acuña ◽  
Diego Franco ◽  
...  
Keyword(s):  
Stem Cell ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Regeneration ◽  
Transcriptional Control ◽  
Neuromuscular Disorders ◽  
Critical Role ◽  
Gene Replacement ◽  
Control Of Gene Expression ◽  
Muscle Disorders

microRNAs (miRNAs) are small non-coding RNAs required for the post-transcriptional control of gene expression. MicroRNAs play a critical role in modulating muscle regeneration and stem cell behavior. Muscle regeneration is affected in muscular dystrophies, and a critical point for the development of effective strategies for treating muscle disorders is optimizing approaches to target muscle stem cells in order to increase the ability to regenerate lost tissue. Within this framework, miRNAs are emerging as implicated in muscle stem cell response in neuromuscular disorders and new methodologies to regulate the expression of key microRNAs are coming up. In this review, we summarize recent advances highlighting the potential of miRNAs to be used in conjunction with gene replacement therapies, in order to improve muscle regeneration in the context of Duchenne Muscular Dystrophy (DMD).

scholarly journals Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

2019 ◽  
Vol 3 (3) ◽  
Author(s):  
Paola Dolader ◽  
Ella Field ◽  
Anna Sarkozy ◽  
Juan Pablo Kaski
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Neuromuscular Disorders ◽  
Elevated Serum ◽  
Becker Muscular Dystrophy ◽  
Neuromuscular Disorder ◽  
Chain Gene ◽  
Septal Hypertrophy ◽  
History Of ◽  
Myocardial Involvement

Abstract Background  Becker muscular dystrophy (BMD) is a neuromuscular disorder associated with myocardial involvement. The most frequent presentation is dilated cardiomyopathy. There have been isolated reports of hypertrophic cardiomyopathy (HCM) in association with BMD, but it is unclear whether these patients had an additional aetiology. Case summary  A 10-year-old boy was diagnosed with BMD having presented with a history of muscular pain during exercise and elevated serum creatine kinase levels. A cardiac screening was arranged and the echocardiogram confirmed an asymmetric septal hypertrophy. Given the unusual finding of HCM in this patient with BMD, we performed genetic testing for HCM-causing mutations and identified a likely pathogenic variant in heterozygosis in the beta-myosin heavy chain gene. Discussion  This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic expressions in neuromuscular disorders.

scholarly journals Patterns of invasive recurrence among patients originally treated for ductal carcinoma in situ by breast-conserving surgery versus mastectomy

2021 ◽  
Vol 186 (3) ◽  
pp. 617-624
Author(s):  
Kate R. Pawloski ◽  
Audree B. Tadros ◽  
Varadan Sevilimedu ◽  
Ashley Newman ◽  
Lori Gentile ◽  
...  
Keyword(s):  
Ductal Carcinoma In Situ ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Advanced Disease ◽  
Breast Conserving Surgery ◽  
Risk Profile ◽  
High Grade ◽  
Group A ◽  
First Recurrence

Abstract Purpose Local recurrence after treatment of ductal carcinoma in situ (DCIS) with breast-conserving surgery (BCS) is more common than after mastectomy, but it is unclear if patterns of invasive recurrence vary by initial surgical therapy. Among patients with invasive recurrence after treatment for DCIS, we compared patterns of first recurrence between those originally treated with BCS vs. mastectomy. Methods From 2000 to 2016, women with an invasive recurrence occurring ≥ 6 months after initial treatment for DCIS were retrospectively identified. Clinicopathologic features and adjuvant treatment of the initial DCIS, as well as characteristics of first invasive recurrences, were compared between patients who had undergone BCS vs. mastectomy. Results 452 patients with an invasive recurrence after surgery for DCIS were identified: 367 patients (81%) had initially undergone BCS and 85 patients (19%) mastectomy. Patients originally treated with mastectomy were younger and were more likely to have had high grade, necrosis, and multifocal or multicentric DCIS (p < 0.001) compared with the BCS group. A higher proportion of invasive recurrences were local after BCS (93%; 343/367), whereas 88% (75/85) of recurrences after mastectomy were regional or distant (p < 0.001). The median time to first invasive recurrence was not different between surgical groups (BCS: 6.4 years vs. mastectomy: 5.5 years; p = 0.12). Conclusions Among women who experienced a first invasive recurrence after treatment for DCIS, those who had originally undergone mastectomy more commonly presented with advanced disease compared to those treated with BCS, likely related to the absence of the breast and the higher risk profile of their initial DCIS.

Influence of Gynecologic Oncologists on the Survival of Patients With Endometrial Cancer

2011 ◽  
Vol 29 (7) ◽  
pp. 832-838 ◽  
Author(s):  
John K. Chan ◽  
Alexander E. Sherman ◽  
Daniel S. Kapp ◽  
Ruxi Zhang ◽  
Kathryn E. Osann ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Advanced Disease ◽  
Early Stage ◽  
Multivariable Analysis ◽  
Lower Grade ◽  
Kaplan Meier ◽  
Group A ◽  
Advanced Stages ◽  
Staging Surgery ◽  
Group B

Purpose Despite a lack of evidence for survival benefit, the American College of Obstetrics and Gynecology has recommendations for referral to gynecologic oncologists for the treatment of endometrial cancer. Therefore, we propose to determine the influence of gynecologic oncologists on the treatment and survival of patients with endometrial cancer. Patients and Methods Data were obtained from Medicare and Surveillance, Epidemiology, and End Results (SEER) databases from 1988 to 2005. Kaplan-Meier and Cox proportional hazard methods were used for analyses. Results Of 18,338 women, 21.4% received care from gynecologic oncologists (group A) while 78.6% were treated by others (group B). Women in group A were older (age > 71 years: 49.6% v 44%; P < .001), had more lymph nodes (> 16) removed (22% v 17%; P < .001), presented with more advanced (stages III to IV) cancers (21.9% v 14.6%; P < .001), had higher-grade tumors (P < .001), and were more likely to receive chemotherapy for advanced disease (22.6% v 12.4%; P < .001). In those with stages II to IV disease, the 5-year disease-specific survival (DSS) of group A was 79% versus 73% in group B (P = .001). Moreover, in advanced-stage (III to IV) disease, group A had 5-year DSS of 72% versus 64% in group B (P < .001). However, no association with DSS was identified in stage I cancers. On multivariable analysis, younger age, early stage, lower grade, and treatment by gynecologic oncologists were independent prognostic factors for improved survival. Conclusion Patients with endometrial cancer treated by gynecologic oncologists were more likely to undergo staging surgery and receive adjuvant chemotherapy for advanced disease. Care provided by gynecologic oncologists improved the survival of those with high-risk cancers.

CIRCADIAN PERIODICITY OF BLOOD AMINO ACIDS IN THE NEONATE

PEDIATRICS ◽  
1970 ◽  
Vol 45 (5) ◽  
pp. 782-791
Author(s):  
Ralph D. Feigin ◽  
Morey W. Haymond
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Detailed Analysis ◽  
Normal Values ◽  
Time Of Day ◽  
Plasma Amino Acids ◽  
Older Children ◽  
Total Blood ◽  
Term Infants ◽  
Plasma Tyrosine

Blood amino acids were obtained every 4 hours for 24 hours from 46 full-term infants who were between 1 hour and 120 hours of age when first sampled. Blood was also obtained at 0400 and 1200 hours on the same day from 10 additional infants, aged 48 to 72 hours at the time of study, for more detailed analysis of individual blood amino acids. Periodicity of total blood amino acids was demonstrated as early as the first day of life in some infants. This blood amino acid rhythmicity was similar but not identical to that previously observed in adults and older children. Concentrations of blood amino acids were minimal at 0400 hours and peaked between 1200 and 2000 hours. Periodicity of individual blood amino acids was similar to that for total blood amino acids but much less consistent. The presence of periodicity for plasma tyrosine was demonstrable even in two patients with neonatal tyrosinemia. Since plasma amino acids vary normally as a function of time, "normal values" must be standardized for time of day.

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