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Article: Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature.

Indika, Neluwa Liyanage Ruwan / Vidanapathirana, Dinesha Maduri / Jasinge, Eresha / Waduge, Roshitha / Shyamali, Narangoda Liyanage Ajantha / Perera, Poruthotage Pradeep Rasika

Case reports in medicine

2020 Volume 2020, Page(s) 7904190

Abstract: Phosphatidate phosphatase-1 (lipin-1) is encoded ... ...

Abstract	Phosphatidate phosphatase-1 (lipin-1) is encoded by
Language	English
Publishing date	2020-05-27
Publishing country	United States
Document type	Case Reports
ZDB-ID	2502642-2
ISSN	1687-9635 ; 1687-9627
ISSN (online)	1687-9635
ISSN	1687-9627
DOI	10.1155/2020/7904190
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Article ; Online: Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

Jasinge, Eresha / Fernando, Mihika / Ruwan Indika, Neluwa-Liyanage / Trunzo, Roberta / Schröder, Sabine / Vidanapathirana, Dinesha Maduri / Jones, Patricia M / Jayasena, Subashini / Gunarathne, Anusha Varuni / Ratnayake, Pyara

Laboratory medicine

2021 Volume 53, Issue 3, Page(s) e62

Language	English
Publishing date	2021-10-04
Publishing country	England
Document type	Published Erratum
ZDB-ID	391758-7
ISSN	1943-7730 ; 0007-5027
ISSN (online)	1943-7730
ISSN	0007-5027
DOI	10.1093/labmed/lmab107
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Article ; Online: A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.

Vidanapathirana, Dinesha Maduri / Jayasena, Subashinie / Jasinge, Eresha / Stiburkova, Blanka

BMC pediatrics

2018 Volume 18, Issue 1, Page(s) 210

Abstract: Background: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis ... ...

Abstract	Background: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute kidney injury. Type 1 is caused by dysfunctional variants in the SLC22A12 gene (URAT1), while type 2 is caused by defects in the SLC2A9 gene (GLUT9). To date, more than 150 patients with the loss-of-function mutations for the SLC22A12 gene have been found (compound heterozygotes and/or homozygotes), most of whom are Japanese and Koreans. Case presentation: Herein, we report a nine year old Sri Lankan boy with renal hypouricemia (serum uric acid 97 μmol/L, fractional excretion of uric acid 33%).The sequencing analysis of SLC22A12 revealed a potentially deleterious missense variant c.1400C > T (p.T467 M, rs200104135) in heterozygous state. This variant has been previously identified in homozygous and/or compound heterozygous state with other causative SLC22A12 variant c.1245_1253del (p.L415_G417del) in Roma population. Conclusions: This is the first identification of a family with mild renal hypouricemia1 associated to the p.T467 M variant. Detailed investigations of urate blood and urine concentrations in patients with unexplained hypouricemia are needed and renal hypouricemia should also be considered in patients other than those from Japan and/or Korea. Our finding confirms an uneven geographical and ethnic distribution of Romany prevalent SLC22A12 variant that need to be considered in Asian patients (population data Genome Aggregation Database: allele frequency in South Asia 0.007055, in East Asia 0.001330).
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heterozygote ; Humans ; Male ; Mutation, Missense ; Organic Anion Transporters/genetics ; Organic Cation Transport Proteins/genetics ; Renal Tubular Transport, Inborn Errors/genetics ; Sri Lanka ; Urinary Calculi/genetics
Chemical Substances	Organic Anion Transporters ; Organic Cation Transport Proteins ; SLC22A12 protein, human
Language	English
Publishing date	2018-06-29
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-018-1185-9
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Article: Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Vidanapathirana, Dinesha Maduri / Rodrigo, Thushara / Waidyanatha, Samantha / Jasinge, Eresha / Hooper, Amanda J / Burnett, John R

Global pediatric health

2017 Volume 4, Page(s) 2333794X17715839

Language	English
Publishing date	2017-06-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	2785531-4
ISSN	2333-794X ; 2333-794X
ISSN (online)	2333-794X
ISSN	2333-794X
DOI	10.1177/2333794X17715839
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Article ; Online: Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood

Neluwa Liyanage Ruwan Indika / Dinesha Maduri Vidanapathirana / Eresha Jasinge / Roshitha Waduge / Narangoda Liyanage Ajantha Shyamali / Poruthotage Pradeep Rasika Perera

Case Reports in Medicine, Vol

A Case Report and Review of Literature

2020 Volume 2020

Abstract: Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan ... ...

Abstract	Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood. These episodes were triggered by infections and exercise. A temporal relationship between the acute episodes and use of drugs such as theophylline, mefenamic acid, co-trimoxazole, and combined oral contraceptive pills was also noted. There was marked elevation of serum creatine kinase and transaminases during acute episodes. Family history revealed parental consanguinity and an affected sibling who died of an acute episode associated with muscle weakness, dark coloured urine, and cyanosis, at the age of 2 years. The histochemical findings of the patient under discussion were consistent with a metabolic myopathy affecting membrane integrity. A homozygous, likely pathogenic variant c.1684G>T encoding p.(Glu562∗) was identified by clinical exome sequencing. Even though the studies to date give no convincing evidence of a possible causal or contributory relationship between the drugs under discussion and lipin-1 related rhabdomyolysis, this case highlights the importance of pharmacovigilance and reporting adverse drug reactions in patients with lipin-1 deficiency.
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2020-01-01T00:00:00Z
Publisher	Hindawi Limited
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

Jasinge, Eresha / Fernando, Mihika / Indika, Neluwa-Liyanage R / Trunzo, Roberta / Schröder, Sabine / Vidanapathirana, Dinesha Maduri / Jones, Patricia M / Jayasena, Subashini / Gunarathne, Anusha Varuni / Ratnayake, Pyara

Laboratory medicine

2021 Volume 53, Issue 3, Page(s) e48–e50

Abstract: Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in ... ...

Abstract	Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in urine. We describe a 3 year old Sri Lankan boy who was referred at age 10 months with poor weight gain and hypotonia for further laboratory investigations. In addition to global developmental delay, there were noticeable dysmorphic features with a prominent forehead, low-set ears, micrognathia, and hypertelorism with persistent neutropenia. Urine organic acid assay revealed a massive elevation of fumaric acid on 2 occasions. Molecular analysis revealed a homozygous likely pathogenic missense variant, NM000143.3:c.1048C>T p. (Arg350Trp), in the FH gene, confirming the biochemical diagnosis. Our patient was the first patient in Sri Lanka molecularly diagnosed with fumaric aciduria. This case study highlights the importance of performing organic acid assays in children presenting with neurologic manifestations especially when these are suspected to have a metabolic basis.
MeSH term(s)	Child ; Child, Preschool ; Diagnostic Tests, Routine ; Fumarate Hydratase/deficiency ; Fumarate Hydratase/genetics ; Fumarate Hydratase/metabolism ; Humans ; Infant ; Male ; Metabolism, Inborn Errors ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Psychomotor Disorders ; Sri Lanka
Chemical Substances	Fumarate Hydratase (EC 4.2.1.2)
Language	English
Publishing date	2021-10-12
Publishing country	England
Document type	Journal Article
ZDB-ID	391758-7
ISSN	1943-7730 ; 0007-5027
ISSN (online)	1943-7730
ISSN	0007-5027
DOI	10.1093/labmed/lmab083
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Indika, Neluwa Liyanage Ruwan / Vidanapathirana, Dinesha Maduri / Dilanthi, Hewa Warawitage / Kularatnam, Grace Angeline Malarnangai / Chandrasiri, Nambage Dona Priyani Dhammika / Jasinge, Eresha

BMC medical genetics

2019 Volume 20, Issue 1, Page(s) 89

Abstract: Background: Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in Sri Lanka. ...

Abstract	Background: Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in Sri Lanka. Case presentation: This report describes 10 unrelated cystic fibrosis cases with phenotypic features of cystic fibrosis and abnormal or intermediate sweat tests. The most common phenotypic features in this sample of symptomatic patients were persistent or recurrent lower respiratory tract infections, failure to thrive and Pseudo-Bartter syndrome. Altogether 7 cystic fibrosis causing mutations were identified in 10 patients. Except delta F508 which is the commonest mutation worldwide all the other mutations detected in Sri Lankan patients are rare mutations. 1161delC and V456A detected in our patients are South Asian mutations. The other mutations such as [C.1282C > G; C.2738A > G], C.53 + 1G > C, 2184insA and a deletion encompassing exons 4 to 11 have been reported previously from European patients with cystic fibrosis. Conclusion: These cases highlight the importance of considering the diagnosis of cystic fibrosis in children and young adults presenting with persistent respiratory tract infections associated with severe malnutrition and Pseudo-Bartter syndrome, especially in low income countries where newborn screening for cystic fibrosis is not available. The spectrum of CFTR mutations in Sri Lanka is heterogeneous and possibly linked to genetic flow from Indian subcontinent and Europe. The common mutations should be identified by sequencing the entire CFTR gene in adequate number of cystic fibrosis patients in order to design a mutation panel for common regional mutations.
MeSH term(s)	Child ; Child, Preschool ; Cystic Fibrosis/genetics ; Cystic Fibrosis/pathology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Female ; Gene Frequency ; Genetic Heterogeneity ; Genotype ; Humans ; Infant ; Male ; Mutation ; Phenotype ; Sri Lanka ; Young Adult
Chemical Substances	Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
Language	English
Publishing date	2019-05-24
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/s12881-019-0815-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.

Kularatnam, Grace Angeline Malarnangai / Warawitage, Hewa Dilanthi / Vidanapathirana, Dinesha Maduri / Jayasena, Subashini / Jasinge, Eresha / de Silva, Ginige Nalika Nirmalene / Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva / Wickramasinghe, Pujitha / Devgun, Manjit Singh / Barbu, Veronique / Lascols, Olivier

BMC research notes

2017 Volume 10, Issue 1, Page(s) 492

Abstract: Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Author 6-given name should be Nalika and family name de Silva. ...

Abstract	Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Author 6-given name should be Nalika and family name de Silva.
Language	English
Publishing date	2017-10-05
Publishing country	England
Document type	Journal Article ; Published Erratum
ZDB-ID	2413336-X
ISSN	1756-0500 ; 1756-0500
ISSN (online)	1756-0500
ISSN	1756-0500
DOI	10.1186/s13104-017-2815-2
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Article ; Online: Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

Neluwa Liyanage Ruwan Indika / Dinesha Maduri Vidanapathirana / Hewa Warawitage Dilanthi / Grace Angeline Malarnangai Kularatnam / Nambage Dona Priyani Dhammika Chandrasiri / Eresha Jasinge

BMC Medical Genetics, Vol 20, Iss 1, Pp 1-

2019 Volume 7

Abstract: Abstract Background Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in ... ...

Abstract	Abstract Background Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in Sri Lanka. Case presentation This report describes 10 unrelated cystic fibrosis cases with phenotypic features of cystic fibrosis and abnormal or intermediate sweat tests. The most common phenotypic features in this sample of symptomatic patients were persistent or recurrent lower respiratory tract infections, failure to thrive and Pseudo-Bartter syndrome. Altogether 7 cystic fibrosis causing mutations were identified in 10 patients. Except delta F508 which is the commonest mutation worldwide all the other mutations detected in Sri Lankan patients are rare mutations. 1161delC and V456A detected in our patients are South Asian mutations. The other mutations such as [C.1282C > G; C.2738A > G], C.53 + 1G > C, 2184insA and a deletion encompassing exons 4 to 11 have been reported previously from European patients with cystic fibrosis. Conclusion These cases highlight the importance of considering the diagnosis of cystic fibrosis in children and young adults presenting with persistent respiratory tract infections associated with severe malnutrition and Pseudo-Bartter syndrome, especially in low income countries where newborn screening for cystic fibrosis is not available. The spectrum of CFTR mutations in Sri Lanka is heterogeneous and possibly linked to genetic flow from Indian subcontinent and Europe. The common mutations should be identified by sequencing the entire CFTR gene in adequate number of cystic fibrosis patients in order to design a mutation panel for common regional mutations.
Keywords	Cystic fibrosis ; Sri Lanka ; Mutations ; Phenotypic features ; Gene sequencing ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
Subject code	610
Language	English
Publishing date	2019-05-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family

Grace Angeline Malarnangai Kularatnam / Dilanthi Warawitage / Dinesha Maduri Vidanapathirana / Subashini Jayasena / Eresha Jasinge / Nalika de Silva / Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi / Pujitha Wickramasinghe / Manjit Singh Devgun / Veronique Barbu / Olivier Lascols

BMC Research Notes, Vol 10, Iss 1, Pp 1-

a case report

2017 Volume 5

Abstract: Abstract Background Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the ... ...

Abstract	Abstract Background Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. Case presentation A Sri Lankan girl presented with recurrent episodes of jaundice. She had conjugated hyperbilirubinaemia with diffuse, coarse brown pigments in the hepatocytes. Urine coproporphyrin examination suggested Dubin–Johnson syndrome. Genetic studies confirmed missense homozygous variant p.Trp709Arg in the ATP-binding cassette sub-family C member 2 gene ABCC2 that encodes the Multidrug resistance-associated protein 2 that causes Dubin–Johnson syndrome. The gene study of the mother revealed the same missense variant in ABCC2/MRP2 but with a heterozygous status, and in addition a homozygous missense variant p.Val444Ala in the ATP-binding cassette, sub-family B member 11 gene ABCB11 that encodes the bile salt export pump. Conclusion Dubin–Johnson syndrome should be considered when the common causes for conjugated hyperbilirubinaemia have been excluded, and patient has an increased percentage of direct bilirubin relative to total bilirubin concentration. Its early diagnosis prevents repeated hospital admissions and investigations. Knowledge of a well known homozygous variant in ABCB11 gene could help in the management of pregnancy.
Keywords	Dubin–Johnson syndrome ; Intrahepatic cholestasis of pregnancy ; Case report ; Conjugated hyperbilirubinemia ; Coproporphyrin isomers ; Liver pigmentation ; Medicine ; R ; Biology (General) ; QH301-705.5 ; Science (General) ; Q1-390
Subject code	610
Language	English
Publishing date	2017-09-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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