LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 5 of total 5

Search options

  1. 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)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  2. 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)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. 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)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Correction to

    Grace Angeline Malarnangai Kularatnam / Hewa Dilanthi Warawitage / Dinesha Maduri Vidanapathirana / Subashini Jayasena / Eresha Jasinge / Ginige Nalika Nirmalene 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-

    Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

    2017  Volume 1

    Abstract: 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 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.
    Keywords Medicine ; R ; Biology (General) ; QH301-705.5 ; Science (General) ; Q1-390
    Language English
    Publishing date 2017-10-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  5. Article ; Online: Uric acid, an important screening tool to detect inborn errors of metabolism

    Eresha Jasinge / Grace Angeline Malarnangai Kularatnam / Hewa Warawitage Dilanthi / Dinesha Maduri Vidanapathirana / Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena / Nambage Dona Priyani Dhammika Chandrasiri / Neluwa Liyanage Ruwan Indika / Pyara Dilani Ratnayake / Vindya Nandani Gunasekara / Lynette Dianne Fairbanks / Blanka Stiburkova

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

    a case series

    2017  Volume 6

    Abstract: Abstract Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We ... ...

    Abstract Abstract Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. Case 1 A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment. Low uric acid concentrations in serum and low urinary fractional excretion of uric acid associated with high urinary excretion of xanthine and hypoxanthine were compatible with xanthine oxidase deficiency. Case 2 An 8-month-old boy presented with intractable seizures, feeding difficulties, screaming episodes, microcephaly, facial dysmorphism and severe neuro developmental delay. Low uric acid level in serum, low fractional excretion of uric acid and radiological findings were consistent with possible molybdenum cofactor deficiency. Diagnosis was confirmed by elevated levels of xanthine, hypoxanthine and sulfocysteine levels in urine. Case 3 A 3-year-10-month-old boy presented with global developmental delay, failure to thrive, dystonia and self-destructive behaviour. High uric acid levels in serum, increased fractional excretion of uric acid and absent hypoxanthine–guanine phosphoribosyltransferase enzyme level confirmed the diagnosis of Lesch–Nyhan syndrome. Case 4 A 9-year-old boy was investigated for lower abdominal pain, gross haematuria and right renal calculus. Low uric acid level in serum and increased fractional excretion of uric acid pointed towards hereditary renal hypouricaemia which was confirmed by genetic studies. Conclusion Abnormal uric acid level in blood and urine is a valuable tool in screening for clinical conditions related to derangement of the nucleic acid metabolic pathway.
    Keywords Uric acid ; Hypouricaemic hypouricosuria ; Hypouricaemic hyperuricosuria ; Hyperuricaemic hyperuricosuria ; Purine ; Medicine ; R ; Biology (General) ; QH301-705.5 ; Science (General) ; Q1-390
    Subject code 616
    Language English
    Publishing date 2017-09-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top