scholarly journals Genetic disturbances in patients with bodily isomerism from a single center: clinical implications of affected genes and potential impact of ciliary dyskinesia

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Rohit S. Loomba ◽  
Peter C. Frommelt ◽  
Robert H. Anderson
Keyword(s):  
Clinical Course ◽  
Gene Mutations ◽  
Clinical Findings ◽  
Specific Gene ◽  
Clinical Implications ◽  
Single Center ◽  
Clinical Support ◽  
Potential Impact ◽  
Ciliary Dyskinesia

So-called heterotaxy or isomerism is characterized by abnormal lateralization and malformations of the bodily organs. The mechanism is unclear, although there is growing evidence that ciliary dyskinesia is involved. We reviewed genetic findings from patients with isomerism to determine if affected genes were known to be associated with isomerism and ciliary dyskinesia and determine associations between genotype and clinical findings. We identified patients with isomerism cared for over a 16-year period. Characteristics were compared between those with and without identified mutations. A total of 83 patients with isomerism were identified. Of those who had genotyping, 14/27 had mutations identified, most frequently involving the <em>CFC1</em> and <em>NODAL</em> genes. Specific mutations were associated with clinical findings, with <em>NODAL</em> mutations often portending need for increased clinical support. Genes associated with isomerism and/or ciliary dyskinesia were identified in the cohort. Specific gene mutations may help predict clinical course.

scholarly journals The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xin Jiang ◽  
Dong Chen
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Spinal Stenosis ◽  
Lumbar Spinal Stenosis ◽  
Gene Mutations ◽  
Specific Gene ◽  
Single Nucleotide ◽  
Degenerative Lumbar Spinal Stenosis ◽  
Whole Exome ◽  
Lumbar Spinal

Abstract Background Degenerative lumbar spinal stenosis (DLSS) is a common lumbar disease that requires surgery. Previous studies have indicated that genetic mutations are implicated in DLSS. However, studies on specific gene mutations are scarce. Whole-exome sequencing (WES) is a valuable research tool that identifies disease-causing genes and could become an effective strategy to investigate DLSS pathogenesis. Methods From January 2016 to December 2017, we recruited 50 unrelated patients with symptoms consistent with DLSS and 25 unrelated healthy controls. We conducted WES and exome data analysis to identify susceptible genes. Allele mutations firstly identified potential DLSS variants in controls to the patients’ group. We conducted a site-based association analysis to identify pathogenic variants using PolyPhen2, SIFT, Mutation Taster, Combined Annotation Dependent Depletion, and Phenolyzer algorithms. Potential variants were further confirmed using manual curation and validated using Sanger sequencing. Results In this cohort, the major classification variant was missense_mutation, the major variant type was single nucleotide polymorphism (SNP), and the major single nucleotide variation was C > T. Multiple SNPs in 34 genes were identified when filtered allele mutations in controls to retain only patient mutations. Pathway enrichment analyses revealed that mutated genes were mainly enriched for immune response-related signaling pathways. Using the Novegene database, site-based associations revealed several novel variants, including HLA-DRB1, PARK2, ACTR8, AOAH, BCORL1, MKRN2, NRG4, NUP205 genes, etc., were DLSS related. Conclusions Our study revealed that deleterious mutations in several genes might contribute to DLSS etiology. By screening and confirming susceptibility genes using WES, we provided more information on disease pathogenesis. Further WES studies incorporating larger DLSS patient cohorts are required to comprehend the genetic landscape of DLSS pathophysiology fully.

Abnormal Baseline Lab Results Rarely Lead to Treatment Modification for Patients on Isotretinoin

Dermatology ◽  
2020 ◽  
Vol 236 (6) ◽  
pp. 517-520 ◽  
Author(s):  
Elizabeth Tkachenko ◽  
Priyank Sharma ◽  
Arash Mostaghimi
Keyword(s):  
Clinical Course ◽  
Liver Function Tests ◽  
Hepatic Disease ◽  
Clinical Implications ◽  
Treatment Modification ◽  
Total Treatment ◽  
Management Changes ◽  
Isotretinoin Therapy ◽  
Low Rate ◽  
Baseline Total Cholesterol

<b><i>Background:</i></b> Treatment modification and clinical course for patients initiating isotretinoin with abnormal baseline lab results is currently unknown, and no recommendations exist for monitoring this patient group. <b><i>Methods:</i></b> We performed a retrospective review of patients prescribed isotretinoin for acne from 2008 to 2016 at Brigham and Women’s and Massachusetts General Hospitals to investigate the characteristics, clinical implications, and management of patients initiating isotretinoin for acne with baseline laboratory abnormalities. <b><i>Results:</i></b> We identified a low rate (7.2%) of treatment modification, including interruption (3.6%) and early termination (3.6%), during isotretinoin therapy due to lab abnormalities for patients with baseline lab abnormalities. Abnormal baseline total cholesterol, triglyceride, and liver function tests did not predict management changes, as only 2 of 10 total treatment modifications were due to a lab result that was abnormal at baseline. Treatment modification was driven by ALT elevation not present at baseline that occurred in patients with liver comorbidities. <b><i>Conclusion:</i></b> Emphasizing relevant comorbidities, including hepatic disease or alcohol use, to inform our monitoring may be a superior predictor of abnormalities during treatment, as our work demonstrates that the value of baseline lab data prior to isotretinoin is unclear.

scholarly journals Fatal Subacute Hepatic Failure in a Patient with AA-Type Amyloidosis: Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Ibrahim Altraif ◽  
Fayaz A. Handoo ◽  
Khaled O. Alsaad ◽  
Adel Gublan
Keyword(s):  
Alkaline Phosphatase ◽  
Case Report ◽  
Hepatic Failure ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Clinical Findings ◽  
Systemic Amyloidosis ◽  
Hepatic Involvement ◽  
Reactive Amyloidosis ◽  
Hepatic Amyloidosis

Although systemic amyloidosis of amyloid-associated protein (AA) type (secondary or reactive amyloidosis) frequently involves the liver, it rarely causes clinically apparent liver disease. Mild elevation of alkaline phosphatase and hepatomegaly are the most common biochemical and clinical findings, respectively. We report a case of systemic amyloidosis of AA type, which clinically presented as subacute hepatic failure and resulted in a fatal clinical course in a 69-year-old man. To the best of our knowledge, this is the fifth case of hepatic amyloidosis of AA type that clinically presented as fatal subacute hepatic failure, an unusual clinical presentation for hepatic involvement by systemic AA-type amyloid.

CAT SCRATCH SYNDROME

PEDIATRICS ◽  
1952 ◽  
Vol 10 (3) ◽  
pp. 311-318
Author(s):  
WILLIAM J. WATERS ◽  
SEYMOUR S. KALTER ◽  
JOHN T. PRIOR
Keyword(s):  
Skin Test ◽  
Laboratory Tests ◽  
Complement Fixation Test ◽  
Complement Fixation ◽  
Clinical Laboratory ◽  
Clinical Course ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Pathologic Findings ◽  
History Of

The clinical, laboratory and pathologic findings of a series of cases of cat scratch syndrome have been reviewed. In spite of a variable clinical course, certain features associated with a selected group of laboratory tests appear to be constant enough to be of diagnostic value. A history of contact with a cat and/or scratch which is usually associated with a peripheral skin lesion, lack of lymphangitis, presence of regional lymphadenopathy with tenderness to palpation are the most constant clinical findings. Fever, so frequently emphasized as a characteristic clinical sign, may be extremely variable in type and duration or entirely absent. A skin test with cat scratch antigen has been positive in all cases. Lacking this antigen, a negative Frei skin test in conjunction with a positive complement fixation test (Lygranum C. F.) is suggestive evidence for the diagnosis. With positive evidence from the above data, biopsy of an affected gland with its relatively nonspecific pathologic picture is not considered essential for the establishment of the diagnosis of cat scratch syndrome.

scholarly journals Global metabolic reprogramming of colorectal cancer occurs at adenoma stage and is induced by MYC

2017 ◽  
Vol 114 (37) ◽  
pp. E7697-E7706 ◽  
Author(s):  
Kiyotoshi Satoh ◽  
Shinichi Yachida ◽  
Masahiro Sugimoto ◽  
Minoru Oshima ◽  
Toshitaka Nakagawa ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cell Growth ◽  
Cancer Cells ◽  
Gene Mutations ◽  
Metabolic Reprogramming ◽  
Colorectal Carcinogenesis ◽  
Specific Gene ◽  
Control Mechanisms ◽  
Pyrimidine Synthesis ◽  
Expression Of Genes

Cancer cells alter their metabolism for the production of precursors of macromolecules. However, the control mechanisms underlying this reprogramming are poorly understood. Here we show that metabolic reprogramming of colorectal cancer is caused chiefly by aberrant MYC expression. Multiomics-based analyses of paired normal and tumor tissues from 275 patients with colorectal cancer revealed that metabolic alterations occur at the adenoma stage of carcinogenesis, in a manner not associated with specific gene mutations involved in colorectal carcinogenesis. MYC expression induced at least 215 metabolic reactions by changing the expression levels of 121 metabolic genes and 39 transporter genes. Further, MYC negatively regulated the expression of genes involved in mitochondrial biogenesis and maintenance but positively regulated genes involved in DNA and histone methylation. Knockdown of MYC in colorectal cancer cells reset the altered metabolism and suppressed cell growth. Moreover, inhibition of MYC target pyrimidine synthesis genes such as CAD, UMPS, and CTPS blocked cell growth, and thus are potential targets for colorectal cancer therapy.

scholarly journals Outcome and clinical course of EHEC O104 infection in hospitalized patients: A prospective single center study

PLoS ONE ◽  
2018 ◽  
Vol 13 (2) ◽  
pp. e0191544
Author(s):  
J. P. Albersmeier ◽  
J. P. Bremer ◽  
W. Dammermann ◽  
S. Lüth ◽  
F. Hagenmüller ◽  
...  
Keyword(s):  
Clinical Course ◽  
Hospitalized Patients ◽  
Single Center ◽  
Single Center Study ◽  
Center Study

scholarly journals Substance use disorders and psychological trauma

2009 ◽  
Vol 33 (7) ◽  
pp. 257-260
Author(s):  
Shaheen Shora ◽  
Elizabeth Stone ◽  
Keron Fletcher
Keyword(s):  
Substance Use ◽  
Alcohol Dependence ◽  
Life Events ◽  
Substance Use Disorders ◽  
Best Practice ◽  
Clinical Course ◽  
Traumatic Events ◽  
Psychological Trauma ◽  
Clinical Implications ◽  
The Impact

Aims and MethodThe Impact of Events Scale was administered to 104 in-patients detoxing from alcohol or opiates to determine the prevalence of psychological trauma, the severity of its symptoms and the types of trauma responsible for symptoms.ResultsOut of the 104 in-patients undergoing detoxification, 75 had symptoms of psychological trauma; in 60 patients the symptoms were in the treatable range. Patients with alcohol-dependence were more severely affected. ‘Life events’ traumatised a higher proportion of individuals than ‘traumatic events’.Clinical ImplicationsPsychological trauma requiring treatment is commonly found in substance misusers. This is rarely addressed despite the cormorbid disorder running a complicated clinical course. There are conflicting opinions about best practice, but consideration should be given to providing patients with accessible treatments for psychological trauma.

scholarly journals Evaluation of Procalcitonin (PCT) As a Marker of Infection in Early Post Living Donated Liver Transplant Period.

2021 ◽  
Author(s):  
Eman Ibrahim El-Desoki Mahmoud ◽  
Mohammad A. Algendy ◽  
Adel M. Al-Ansary ◽  
Maissa K. Noaman
Keyword(s):  
Liver Transplantation ◽  
Clinical Course ◽  
Leukocyte Count ◽  
Demographic Data ◽  
Positive Culture ◽  
Infectious Complications ◽  
Total Leukocyte Count ◽  
Solid Organ ◽  
Single Center ◽  
Cutoff Value

Abstract Background: Procalcitonin (PCT) has been increasingly used as a biomarker of bacterial infection and as a tool to guide antimicrobial therapy. Despite its increased use, data in patients with solid organ transplants are limited. The study aim is to assess the frequency of rising procalcitonin associated with infectious complications in immunosuppressed living donated liver transplantation.Methods: A single center, retrospective observational study. Preoperative patients' demographic data, operative, anesthetic data and postoperative clinical course are analyzed till discharge from intensive care unit.Results: Sixty patients were classified according to the culture results' into a positive culture group & a negative one, then following up sepsis variables in each group. Total leukocyte count (TLC) and procalcitonin (PCT) were high in the positive culture group in the first 4 and 5 days respectively and was statistically significant (P-value < 0.05).PCT at a cutoff value ≥ 9ng/ml had higher specificity, especially on day three postoperative (90.7%). The TLC cutoff value of ≥ 17.3/mm3on day one; had the specificity of > 90%. Conclusions: following up PCT level on day one with TLC is essential and will help to detect sepsis and guide early antimicrobial initiation post liver transplantation.Trial registration: NHTMRI, NCT03389360. Registered 7 February, 2018,https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S0007O6F&selectaction=Edit&uid=U0003W0U&ts=2&cx=fwyacz

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