Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia

Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT. The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group. The authors consider that the high degree of endogamy in this specific population could underlie modifying factors for the severity of presentation in these patients. Future studies might provide more information on the functional effect of this novel mutation, which could define this group as a genetic isolate.

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Natural History of Acute Symptomatic Hepatitis Type C

Infection ◽

10.1007/s15010-004-3062-8 ◽

2004 ◽

Vol 32 (3) ◽

pp. 138-143 ◽

Cited By ~ 19

Author(s):

A. Boron-Kaczmarska ◽

M. Radkowski ◽

M. Wawrzynowicz-Syczewska ◽

J. Kubicka ◽

Z. Lewandowski

Keyword(s):

Natural History ◽

History Of ◽

Type C

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Type C Viruses of Wild Mice: Characterization and Natural History of Amphotropic, Ecotropic, and Xenotropic MuLV

Modern Aspects of Electrochemistry ◽

10.1007/978-3-642-66853-1_5 ◽

1978 ◽

pp. 215-259 ◽

Cited By ~ 65

Author(s):

Murray B. Gardner

Keyword(s):

Natural History ◽

Wild Mice ◽

History Of ◽

Type C

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Natural History of End-stage LV Dysfunction: Has It Improved from the Classic Franciosa and Cohn Graph?

Cardiology Clinics ◽

10.1016/j.ccl.2011.08.012 ◽

2011 ◽

Vol 29 (4) ◽

pp. 485-495 ◽

Cited By ~ 1

Author(s):

Daniel Jacoby ◽

Oltjan Albajrami ◽

Lavanya Bellumkonda

Keyword(s):

Natural History ◽

Lv Dysfunction ◽

History Of ◽

End Stage

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Hepatitis C and HIV Co-Infection

10.1093/med/9780199392742.003.0043 ◽

2017 ◽

Author(s):

Jennifer Cohen Price ◽

Priyanka Amin ◽

Antoine Douaihy

Keyword(s):

Hepatitis C ◽

Natural History ◽

The United States ◽

Hcv Infection ◽

Hepatic Decompensation ◽

History Of ◽

Chronic Hcv ◽

Direct Acting ◽

End Stage ◽

Shared Risk

Chronic infection with hepatitis C virus (HCV) is a leading cause of end-stage liver disease and is the most common indication for liver transplantation in the United States. Because of shared risk factors, individuals living with HIV infection are disproportionately affected by HCV. Moreover, co-infection with HIV accelerates the natural history of chronic HCV infection, increasing the risk of cirrhosis, hepatocellular carcinoma, hepatic decompensation, and death. Highly effective medications such as direct-acting antivirals (DAA) to cure HCV are now available and have the potential to profoundly improve the health of HIV-HCV-co-infected individuals. However, addressing the many gaps in the HCV care cascade is necessary to fully achieve the benefits of these drugs. This chapter reviews the natural history of HIV-HCV co-infection, the psychiatric comorbidities associated with HCV infection, the evolution of HCV treatment, and the barriers to care that HIV-HCV-co-infected individuals continue to face.

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Editorial Comment on “Natural History of End-Stage LV Dysfunction: Has it Improved from the Classic Franciosa and Cohn Graph?”

Cardiology Clinics ◽

10.1016/j.ccl.2011.08.009 ◽

2011 ◽

Vol 29 (4) ◽

pp. 497

Author(s):

John A. Elefteriades

Keyword(s):

Natural History ◽

Editorial Comment ◽

Lv Dysfunction ◽

History Of ◽

End Stage

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MO136RELATIONSHIP BETWEEN UPCR AND EGFR IN C3 GLOMERULOPATHY

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab092.0014 ◽

2021 ◽

Vol 36 (Supplement_1) ◽

Author(s):

Carla Nester ◽

Patrick Breheny ◽

Monica Hall ◽

Alan Charney ◽

Martin Lefkowitz ◽

...

Keyword(s):

Natural History ◽

Small Sample Size ◽

Continuous Variable ◽

Small Sample ◽

C3 Glomerulopathy ◽

University Of Iowa ◽

History Of ◽

Stage Renal Disease ◽

End Stage ◽

The Relationship

Abstract Background and Aims Considerable knowledge gaps exist in our understanding of the natural history of C3 glomerulopathy (C3G). Disease rarity, multiple nomenclature changes, and the inclusion of dissimilar cases in historical cohorts have precluded retrospective studies to define the natural course of C3G and identify risks for progression to kidney failure (end stage renal disease/ESRD). In the present analysis, we focus on C3G patients with native kidneys and examine the relationship between reductions in UPCR and disease progression as indicated by changes in eGFR. Method Patients included in this study were consented and enrolled in the University of Iowa C3G ReCom Registry, which was created in 2013. Beginning in 2017, complement activity and renal function data were collected prospectively at approximately 6-month intervals to define the natural history of C3G. Analyses were performed across 1-year periods of time (“spans”). To be included in a span, a patient had to meet the following criteria at the start of the 1-year period: native C3G, eGFR ≥30 mL/min/1.73 m2, UPCR ≥1 g/g and ≥12 years of age. An individual patient could be included in more than one span. Results Analyses were performed using 34 one-year spans for 24 patients who met inclusion criteria at the beginning of the 1-year span. Baseline characteristics for the 34 spans were: male, 59%; mean age, 22.7 years; mean eGFR, 83.1 ml/min/1.73m2; mean UPCR, 2.86 g/g; mean plasma C3, 75.1 mg/dL. Similar analyses using only the first 1-year span for each of the 24 patients produced results that were consistent with those generated using all 1-year spans. Limitations of this study include its small sample size and data variability due to its observational nature. Conclusion The findings of this observational study support the premise that reductions in proteinuria are associated with a more stable eGFR in native kidney C3G. Regression analyses using UPCR as a continuous variable demonstrate the relationship between reduction in UPCR and preservation of eGFR. This association was also observed using both change in eGFR by UPCR reduction subgroup and UPCR-eGFR categorical analyses.

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A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

Lipids in Health and Disease ◽

10.1186/s12944-019-1181-6 ◽

2019 ◽

Vol 18 (1) ◽

Cited By ~ 1

Author(s):

Ali Haydar Eskiocak ◽

Sara Missaglia ◽

Laura Moro ◽

Murat Durdu ◽

Daniela Tavian

Keyword(s):

Neutral Lipids ◽

Novel Mutation ◽

Autosomal Recessive Disorder ◽

Skin Lesions ◽

Clinical Feature ◽

Nonalcoholic Fatty Liver ◽

Pityriasis Rubra Pilaris ◽

Long Time ◽

History Of

Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.

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