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Article ; Online: Thiamine-responsive megaloblastic anaemia.

Veetil, Vimal Mavila / Pachat, Divya / Nikitha, K / Kutty, Jesheera Mohammed

2024 Volume 36, Issue 5, Page(s) 314–315

Abstract: We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic ... ...

Abstract	We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.
MeSH term(s)	Humans ; Female ; Anemia, Megaloblastic/drug therapy ; Anemia, Megaloblastic/genetics ; Anemia, Megaloblastic/diagnosis ; Adult ; Thiamine/therapeutic use ; Thiamine Deficiency/diagnosis ; Thiamine Deficiency/drug therapy ; Thiamine Deficiency/congenital ; Membrane Transport Proteins/genetics ; Mutation ; Vitamin B Complex/therapeutic use ; Diabetes Mellitus ; Hearing Loss, Sensorineural
Chemical Substances	SLC19A2 protein, human
Language	English
Publishing date	2024-05-17
Publishing country	India
Document type	Case Reports ; Journal Article
ZDB-ID	645116-0
ISSN	2583-150X ; 0970-258X
ISSN (online)	2583-150X
ISSN	0970-258X
DOI	10.25259/NMJI_20_21
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Article: Nasu-Hakola Disease - A Rare Type of Presenile Dementia.

Krishnadas, N C / Abdulla, Mansoor C / Pachat, Divya

Annals of Indian Academy of Neurology

2022 Volume 25, Issue 4, Page(s) 771–772

Language	English
Publishing date	2022-05-05
Publishing country	India
Document type	Journal Article
ZDB-ID	2240174-X
ISSN	1998-3549 ; 0972-2327
ISSN (online)	1998-3549
ISSN	0972-2327
DOI	10.4103/aian.aian_1059_21
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Article: Variable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series.

Mohanlal, Smilu / Babu, Sachin Suresh / Pachat, Divya

Annals of Indian Academy of Neurology

2021 Volume 24, Issue 3, Page(s) 449–450

Language	English
Publishing date	2021-01-25
Publishing country	India
Document type	Journal Article
ZDB-ID	2240174-X
ISSN	1998-3549 ; 0972-2327
ISSN (online)	1998-3549
ISSN	0972-2327
DOI	10.4103/aian.AIAN_495_20
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Article: Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies.

Balaji, Aarthi / Mohanlal, Smilu / Pachat, Divya / Babu, Sachin Suresh / Kumar, Ek Suresh / Mamukoya, Najiya / Das, Syama

Annals of Indian Academy of Neurology

2023 Volume 26, Issue 5, Page(s) 723–727

Abstract: Introduction: The recent evolution of genomics has led to the development of targeted therapeutics, revolutionizing medical approaches. This study aimed to assess the impact of genetic testing on the current epilepsy management paradigm with a specific ... ...

Abstract	Introduction: The recent evolution of genomics has led to the development of targeted therapeutics, revolutionizing medical approaches. This study aimed to assess the impact of genetic testing on the current epilepsy management paradigm with a specific focus on the variability of outcomes subsequent to genetic diagnoses. Methodology: Data were collected retrospectively from a cohort of children aged 1-18 years, diagnosed with refractory epilepsy of confirmed genetic origin. The participants received care at a quaternary care center's pediatric neurology clinic from August 2019 to June 2021. The collected information included demographic characteristics, seizure types, EEG findings, imaging abnormalities, genetic diagnoses, attempted treatments, and seizure outcomes. Results: Among the 210 children with confirmed genetic diagnoses, 74 were included in the study. The gender distribution comprised 45 males and 29 females. Within the cohort, 68/74 exhibited single gene variations, with 23 cases associated with sodium/potassium/calcium channelopathies. Precision medicine could be applied to 25/74 cases. 17/74 children (22.97%) experienced a reduction of up to 50% in seizure frequency due to precision medicine implementation. Conclusion: While our study indicates the significance of genetic insights in adapting treatment approaches for pediatric epilepsy, it is important to temper our conclusions. The retrospective nature of our study confines our ability to definitively gauge the extent of precision medicine's utility. Our findings suggest the potential of genetic information to enhance epilepsy management, but the true impact of precision medicine can only be established through prospective investigations.
Language	English
Publishing date	2023-10-26
Publishing country	India
Document type	Journal Article
ZDB-ID	2240174-X
ISSN	1998-3549 ; 0972-2327
ISSN (online)	1998-3549
ISSN	0972-2327
DOI	10.4103/aian.aian_314_23
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Article ; Online: FUS positive juvenile ALS-diagnostic and therapeutic insights from a 16-year-old female patient.

Philip, Anu / Sureshbabu, Sachin / Nikitha, K / Pachat, Divya / Janardhanan, Sujith / Narayanan, Rekha / Peter, Sudhir / Chindrippu, Sobhana / Joseph, Merisin / Mohanlal, Smilu

Acta neurologica Belgica

2022 Volume 123, Issue 2, Page(s) 637–639

MeSH term(s)	Female ; Humans ; Adolescent ; Amyotrophic Lateral Sclerosis/diagnosis ; Amyotrophic Lateral Sclerosis/therapy ; Mutation ; RNA-Binding Protein FUS/genetics
Chemical Substances	RNA-Binding Protein FUS ; FUS protein, human
Language	English
Publishing date	2022-03-15
Publishing country	Italy
Document type	Case Reports ; Letter
ZDB-ID	127315-2
ISSN	2240-2993 ; 0300-9009
ISSN (online)	2240-2993
ISSN	0300-9009
DOI	10.1007/s13760-021-01825-9
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Article ; Online: Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.

Bhattad, Sagar / Mohite, Rachna S / Singh, Neha / Kotecha, Udhaya / Jhawar, Prerna / Ramprakash, Stalin / Commondoor, Raghuram / Jayaram, Ananthvikas / Rayabarapu, Pranavchand / Kumar, Harish / Unni, Jeeson / Cyril, Gladys / Kumar, Suresh / Pachat, Divya / Jakka, Shrinivas / Makam, Adinarayana / Porta, Fulvio / Ginigeri, Chetan

Clinical and experimental medicine

2023 Volume 23, Issue 8, Page(s) 5399–5412

Abstract: Primary immune deficiencies or inborn errors of immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections, allergy, autoimmunity, autoinflammation and malignancies. IEIs are increasingly being recognized in ... ...

Abstract	Primary immune deficiencies or inborn errors of immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections, allergy, autoimmunity, autoinflammation and malignancies. IEIs are increasingly being recognized in the Indian subcontinent. Two hundred and eight patients diagnosed with an IEI during February 2017 to November 2021 at a tertiary care center in South India were included in the study. The clinical features, laboratory findings including microbiologic and genetic data, and treatment and outcome details were analyzed. The diagnosis of IEI was confirmed in a total of 208 patients (198 kindreds) based on relevant immunological tests and/or genetic tests. The male-to-female ratio was 1.8:1. Of the 208 patients, 72 (34.6%) were < 1 yr, 112 (53.8%) were 1-18 years, and 24 (11.5%) were above 18 years. The most common IEI in our cohort was SCID (17.7%) followed by CGD (12.9%) and CVID (9.1%). We also had a significant proportion of patients with DOCK8 deficiency (7.2%), LAD (6.2%) and six patients (2.8%) with autoinflammatory diseases. Autoimmunity was noted in forty-six (22%) patients. Molecular testing was performed in 152 patients by exome sequencing on the NGS platform, and a genetic variant was reported in 132 cases. Twenty-nine children underwent 34 HSCT, and 135 patients remain on supportive therapy such as immunoglobulin replacement and/or antimicrobial prophylaxis. Fifty-nine (28.3%) patients died during the study period, and infections were the predominant cause of mortality. Seven families underwent prenatal testing in the subsequent pregnancy. We describe the profile of 208 patients with IEI, and to the best of our knowledge, this represents the largest data on IEI from the Indian subcontinent reported so far.
MeSH term(s)	Child ; Pregnancy ; Humans ; Female ; Male ; Tertiary Care Centers ; Autoimmunity ; India/epidemiology ; Guanine Nucleotide Exchange Factors
Chemical Substances	DOCK8 protein, human ; Guanine Nucleotide Exchange Factors
Language	English
Publishing date	2023-10-28
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2053018-3
ISSN	1591-9528 ; 1591-8890
ISSN (online)	1591-9528
ISSN	1591-8890
DOI	10.1007/s10238-023-01225-8
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Article: Biallelic loss of function variants in

Engal, Eden / Oja, Kaisa Teele / Maroofian, Reza / Geminder, Ophir / Le, Thuy-Linh / Mor, Evyatar / Tzvi, Naama / Elefant, Naama / Zaki, Maha S / Gleeson, Joseph G / Muru, Kai / Pajusalu, Sander / Wojcik, Monica H / Pachat, Divya / Elmaksoud, Marwa Abd / Jeong, Won Chan / Lee, Hane / Bauer, Peter / Zifarelli, Giovanni /

Houlden, Henry / Elpeleg, Orly / Gordon, Chris / Harel, Tamar / Õunap, Katrin / Salton, Maayan / Mor-Shaked, Hagar

medRxiv : the preprint server for health sciences

2023

Abstract: Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies. ... ...

Abstract	Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies. Ascertained through GeneMatcher we identified eleven patients from eight families, with a severe neurodevelopmental syndrome with variable manifestations. Clinical manifestations included hypotonia, global developmental delay, severe intellectual disability, brain abnormalities, musculoskeletal and gastrointestinal abnormalities. Genetic analysis revealed overall five different homozygous loss-of-function variants in
Language	English
Publishing date	2023-06-27
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.06.19.23291425
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Article: Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.

Arunachal, Gautham / Pachat, Divya / Doss, C George Priya / Danda, Sumita / Pai, Rekha / Ebenazer, Andrew

Genetics research international

2016 Volume 2016, Page(s) 9872594

Abstract: Von Hippel-Lindau [VHL] disease, an autosomal dominant hereditary cancer syndrome, is well known for its complex genotype-phenotype correlations. We looked for germline mutations in the VHL gene in an affected multiplex family with Type 1 VHL disease. ... ...

Abstract	Von Hippel-Lindau [VHL] disease, an autosomal dominant hereditary cancer syndrome, is well known for its complex genotype-phenotype correlations. We looked for germline mutations in the VHL gene in an affected multiplex family with Type 1 VHL disease. Real-Time quantitative PCR for deletions and Sanger sequencing of coding regions along with flanking intronic regions were performed in two affected individuals and one related individual. Direct sequencing identified a novel heterozygous single nucleotide base substitution in both the affected members tested, segregating with VHL phenotype in this family. This variant in exon 3, c.473T>A, results in substitution of leucine, a highly conserved acid, to glutamine at position 158 [p.L158Q] and has not been reported thus far as a variant associated with disease causation. Further, this variant was not observed in 50 age and ethnicity matched healthy individuals. Extensive in silico prediction analysis along with molecular dynamics simulation revealed significant deleterious nature of the substitution L158Q on pVHL. The results of this study when collated support the view that the missense variation p.L158Q in the Elongin C binding domain of pVHL may be disease causing.
Language	English
Publishing date	2016-03-16
Publishing country	Egypt
Document type	Journal Article
ZDB-ID	2662558-1
ISSN	2090-3162 ; 2090-3154
ISSN (online)	2090-3162
ISSN	2090-3154
DOI	10.1155/2016/9872594
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Article ; Online: Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.

Ravichandran, Lavanya / Korula, Sophy / Asha, H S / Varghese, Deny / Parthiban R / Johnson, Jabasteen / Ishwarya, Janani / Shetty, Sahana / Cherian, Kripa Elizabeth / Jebasingh, Felix / Kapoor, Nitin / Pachat, Divya / Mathai, Sarah / Simon, Anna / Rajaratnam, Simon / Paul, Thomas V / Thomas, Nihal / Chapla, Aaron

European journal of medical genetics

2021 Volume 64, Issue 12, Page(s) 104369

Abstract: Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent of massive parallel ... ...

Abstract	Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent of massive parallel sequencing technology, there is a need for investigating its utility in screening extended panel of genes implicated in CAH. In this study, we have established and utilized an Allele-Specific Polymerase Chain Reaction (ASPCR) based approach for screening eight common mutations in CYP21A2 gene followed by targeted Next Generation Sequencing (NGS) of CYP21A2, CYP11B1, CYP17A1, POR, and CYP19A1 genes in 72 clinically diagnosed CAH subjects from India. Through these investigations, 88.7% of the subjects with 21 hydroxylase deficiency were positive for eight CYP21A2 mutations with ASPCR. The targeted NGS assay was sensitive to pick up all the mutations identified by ASPCR. Utilizing NGS in subjects negative for ASPCR, five study subjects were homozygous positive for other CYP21A2 variants: one with a novel c.1274G>T, three with c.1451G>C and one with c.143A>G variant. One subject was compound heterozygous for c.955C>T and c.1042G>A variants identified using ASPCR and NGS. One subject suspected for a Simple Virilizing (SV) 21 hydroxylase deficiency was positive for a CYP19A1:c.1142A>T variant. CYP11B1 variants (c.1201-1G>A, c.1200+1del, c.412C>T, c.1024C>T, c.1012dup, c.623G>A) were identified in all six subjects suspected for 11 beta-hydroxylase deficiency. The overall mutation positivity was 97.2%. Our results suggest that ASPCR followed by targeted NGS is a cost-effective and comprehensive strategy for screening common CYP21A2 mutations and the CAH panel of genes in a clinical setting.
MeSH term(s)	Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/genetics ; Alleles ; Female ; Genetic Testing/methods ; High-Throughput Nucleotide Sequencing/methods ; Humans ; India ; Male ; Mutation/genetics ; Phenotype ; Polymerase Chain Reaction/methods ; Steroid 21-Hydroxylase/genetics
Chemical Substances	Steroid 21-Hydroxylase (EC 1.14.14.16)
Language	English
Publishing date	2021-10-27
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2021.104369
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Article ; Online: Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Engal, Eden / Oja, Kaisa Teele / Maroofian, Reza / Geminder, Ophir / Le, Thuy-Linh / Marzin, Pauline / Guimier, Anne / Mor, Evyatar / Zvi, Naama / Elefant, Naama / Zaki, Maha S / Gleeson, Joseph G / Muru, Kai / Pajusalu, Sander / Wojcik, Monica H / Pachat, Divya / Elmaksoud, Marwa Abd / Chan Jeong, Won / Lee, Hane /

Bauer, Peter / Zifarelli, Giovanni / Houlden, Henry / Daana, Muhannad / Elpeleg, Orly / Amiel, Jeanne / Lyonnet, Stanislas / Gordon, Christopher T / Harel, Tamar / Õunap, Katrin / Salton, Maayan / Mor-Shaked, Hagar

American journal of human genetics

2023 Volume 110, Issue 12, Page(s) 2112–2119

Abstract: Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal complex and has not been previously associated with human pathologies in the ... ...

Abstract	Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal complex and has not been previously associated with human pathologies in the Online Mendelian Inheritance in Man (OMIM) database. Through GeneMatcher, we identified ten individuals from eight families with a severe neurodevelopmental syndrome featuring variable manifestations. Clinical manifestations included hypotonia, global developmental delay, severe intellectual disability, brain abnormalities, musculoskeletal, and gastrointestinal abnormalities. Genetic analysis revealed five different homozygous loss-of-function variants in WBP4. Immunoblotting on fibroblasts from two affected individuals with different genetic variants demonstrated a complete loss of protein, and RNA sequencing analysis uncovered shared abnormal splicing patterns, including in genes associated with abnormalities of the nervous system, potentially underlying the phenotypes of the probands. We conclude that bi-allelic variants in WBP4 cause a developmental disorder with variable presentations, adding to the growing list of human spliceosomopathies.
MeSH term(s)	Humans ; Spliceosomes/genetics ; Neurodevelopmental Disorders/genetics ; Intellectual Disability/genetics ; Intellectual Disability/complications ; Syndrome ; Nervous System Malformations/genetics ; Loss of Heterozygosity ; Phenotype
Language	English
Publishing date	2023-11-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2023.10.013
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