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JIMD Reports

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https://www.readbyqxmd.com/read/29299872/coping-strategies-stress-and-support-needs-in-caregivers-of-children-with-mucopolysaccharidosis
#1
Amy Schadewald, Ericka Kimball, Li Ou
The mucopolysaccharidoses are a set of rare, inherited conditions that can have a catastrophic impact on those affected and their families. Because of the rarity of these disorders, little is known regarding the challenges faced by families of those affected and what coping mechanisms are commonly used. Coping is a way to manage demands that occur in one's environment or within oneself. Medical social workers historically have facilitated this process while providing support to patients who are responding to pressures of their diagnosis and the system...
January 4, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29292491/long-term-systematic-monitoring-of-four-polish-transaldolase-deficient-patients
#2
Patryk Lipiński, Joanna Pawłowska, Teresa Stradomska, Elżbieta Ciara, Irena Jankowska, Piotr Socha, Anna Tylki-Szymańska
INTRODUCTION: Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. Tżhere are few reports regarding the long-term follow-up of these patients.The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO. METHODS AND RESULTS: We report four patients who manifested early onset TALDO...
January 3, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29292490/two-uneventful-pregnancies-in-a-woman-with-glutaric-aciduria-type-1
#3
Karolina M Stepien, Gregory M Pastores, Una Hendroff, Ciara McCormick, Patricia Fitzimons, Naveed Khawaja, Ingrid Borovickova, Eileen P Treacy
Glutaric aciduria type 1 (GA1) is an autosomal recessive rare disorder caused by mutations in the GCDH gene resulting in deficiency of glutaryl-CoA dehydrogenase, leading to accumulation of the amino acids lysine, hydroxylysine and tryptophan and other metabolites. The phenotypic spectrum of disease is broad. Stress caused by infection and fever and possibly pregnancy may lead to worsening of the signs and symptoms, often with uncertain recovery.We describe a case of a female patient with GA1 who had two clinically uneventful pregnancies...
January 3, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29288420/characterization-of-phenyalanine-hydroxylase-gene-mutations-in-chilean-pku-patients
#4
V Hamilton, L Santa María, K Fuenzalida, P Morales, L R Desviat, M Ugarte, B Pérez, J F Cabello, V Cornejo
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive disease, caused by mutations in the Phenylalanine Hydroxylase (PAH) gene situated in chromosome 12q22-q24.2. This gene has 13 exons. To date, 991 mutations have been described. The genotype is one of the main factors that determine the phenotype of this disease. OBJECTIVE: Characterize PKU genotype and phenotype seen in Chilean PKU patients. METHODS: We studied the PAH gene by restriction fragment length polymorphism (RFLP) and/or sequencing techniques to identify pathogenic mutations in 71 PKU subjects...
December 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29249004/leber-hereditary-optic-neuropathy-and-longitudinally-extensive-transverse-myelitis
#5
C Bursle, K Riney, J Stringer, D Moore, G Gole, L S Kearns, D A Mackey, D Coman
Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29249003/mitochondrial-disease-in-children-the%C3%A2-nephrologist-s-perspective
#6
Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López, Luis Gutiérrez-Solana
Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group. OBJECTIVE: To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center. STUDY DESIGN: Retrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29243037/expert-opinion-vs-patient-perspective-in-treatment-of%C3%A2-rare%C3%A2-disorders-tooth-removal-in-lesch-nyhan-disease-as%C3%A2-an%C3%A2-example
#7
Adam C Cotton, R B Bell, H A Jinnah
Treatment recommendations for rare disorders often are limited by a lack of data from objective clinical trials. As a result, recommendations are often based on expert opinion. Because expert opinions sometimes conflict, many patients turn to the Internet for guidance from others who may have tried a treatment. The increasing numbers of patients and families who post opinions regarding outcomes allow for systematic data collection regarding specific treatments from the patient perspective. We used social media research methods to determine the opinions of family members or other caregivers regarding permanent removal of teeth for treatment of self-injurious biting (SIB) in patients with Lesch-Nyhan disease (LND), a particularly difficult treatment decision where expert opinion is divided...
December 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29214524/effect-of-storage-conditions-on-stability-of-ophthalmological-compounded-cysteamine-eye-drops
#8
Ahmed Reda, Ann Van Schepdael, Erwin Adams, Prasanta Paul, David Devolder, Mohamed A Elmonem, Koenraad Veys, Ingele Casteels, Lambertus van den Heuvel, Elena Levtchenko
Cystinosis is a hereditary genetic disease that results in the accumulation of cystine crystals in the lysosomes, leading to many clinical manifestations. One of these manifestations is the formation of corneal cystine crystals, which can cause serious ocular complications. The only available drug to treat cystinosis is cysteamine, which breaks cystine and depletes its accumulation in the lysosomes. However, the oral form of cysteamine is not effective in treating corneal manifestations. Thus, ophthalmic solutions of cysteamine are applied...
December 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29214523/haematopoietic-stem-cell-transplantation-arrests-the-progression-of-neurodegenerative-disease-in-late-onset-tay-sachs-disease
#9
Karolina M Stepien, Su Han Lum, J Edmond Wraith, Christian J Hendriksz, Heather J Church, David Priestman, Frances M Platt, Simon Jones, Ana Jovanovic, Robert Wynn
Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing tremor since 7 years of age...
December 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29170929/the-validity-of-bioelectrical-impedance-analysis-to-measure-body-composition-in-phenylketonuria
#10
Maureen Evans, Kay Nguo, Avihu Boneh, Helen Truby
AIM: To compare the measurement of total body water (TBW) and fat-free mass (FFM) using the criterion method of deuterium dilution space ((2)H2O) with bioelectrical impedance analysis (BIA) using a portable QuadScan 4000, Bodystat(®) in children and adolescents with phenylketonuria (PKU). METHODS: Sixteen patients with PKU, median age is 12.5 (range 5-20.6) years, were recruited into this cross-sectional study. TBW was measured by both deuterium dilution and BIA on the same occasion as per a standard protocol...
November 24, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#11
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159460/compound-heterozygous-inheritance-of-mutations-in-coenzyme-q8a-results-in-autosomal-recessive-cerebellar-ataxia-and-coenzyme-q10-deficiency-in-a-female-sib-pair
#12
Jessie C Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R Love, Rosamund Hill, Sarah Molyneux, Peter M George, Richard Mackay, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#13
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159458/cardiopulmonary-exercise-testing-reflects-improved-exercise-capacity-in-response-to-treatment-in-morquio-a-patients-results-of-a-52-week-pilot-study-of-two-different-doses-of-elosulfase-alfa
#14
Kenneth I Berger, Barbara K Burton, Gregory D Lewis, Mark Tarnopolsky, Paul R Harmatz, John J Mitchell, Nicole Muschol, Simon A Jones, V Reid Sutton, Gregory M Pastores, Heather Lau, Rebecca Sparkes, Adam J Shaywitz
OBJECTIVE: To assess impact of a 52-week elosulfase alfa enzyme replacement therapy (ERT) on exercise capacity in Morquio A patients and analyze cardiorespiratory and metabolic function during exercise to uncover exercise limitations beyond skeletal abnormalities. METHODS: Morquio A patients aged ≥7 years, able to walk >200 m in the 6-minute walk test (6MWT), received elosulfase alfa 2.0 mg/kg/week (N = 15) or 4.0 mg/kg/week (N = 10) for 52 weeks in the randomized, double-blind MOR-008 study ( ClinicalTrials...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29147990/assessment-of-the-effect-of-once-daily-nitisinone-therapy-on-24-h-urinary-metadrenalines-and-5-hydroxyindole-acetic-acid-excretion-in-patients-with-alkaptonuria-after-4-weeks-of-treatment
#15
A S Davison, B Norman, A M Milan, A T Hughes, M Khedr, J Rovensky, J A Gallagher, L R Ranganath
BACKGROUND: One of the major metabolic consequences of using nitisinone to treat patients with alkaptonuria is that circulating tyrosine concentrations increase. As tyrosine is required for the biosynthesis of catecholamine neurotransmitters, it is possible that their metabolism is altered as a consequence. Herein we report the 24-h urinary excretion of normetadrenaline (NMA), metadrenaline (MA), 3-methoxytyramine (3-MT) (catecholamine metabolites) and 5-hydroxyindole acetic acid (5-HIAA, metabolite of serotonin) in a cohort of AKU patients before and after a 4-week treatment trial with nitisinone...
November 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29143197/three-cases-of-hereditary-tyrosinaemia-type-1-neuropsychiatric-outcomes-and-brain-imaging-following-treatment-with-ntbc
#16
Helen Walker, Mervi Pitkanen, Yusof Rahman, Sally F Barrington
AIM: To examine neuropsychiatric outcomes in adults with hereditary tyrosinaemia type I (HT-1), treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylalanine-tyrosine (Phe:Tyr) ratios. DESIGN: We retrospectively reviewed the medical records of three adult HT-1 patients with a particular focus on their FDG PET/CT brain scans, neuropsychiatric assessment (including neurocognitive assessment and mood and anxiety ratings) as well as mean tyrosine and phenylalanine levels and Phe:Tyr ratios for 3-month period...
November 16, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29124685/mitochondrial-trifunctional-protein-deficiency-severe-cardiomyopathy-and-cardiac-transplantation
#17
C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function...
November 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29119402/a-third-case-of-glycogen-storage-disease-ib-and-giant-cell-tumour-of-the-mandible-a-disease-association-or%C3%A2-iatrogenic-complication-of-therapy
#18
Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C Tchan
We report the third case of Glycogen Storage Disease type 1b (GSD 1b) with Giant Cell Tumour (GCT) of the mandible, associated with Granulocyte Colony Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. He underwent therapy with interferon followed by local resection which was successful in initial control of the disease...
November 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29086383/early-diagnosed-and-treated-glutaric-acidemia-type-1-female-presenting-with-subependymal-nodules-in-adulthood
#19
Bimal Patel, Surekha Pendyal, Priya S Kishnani, Marie McDonald, Lauren Bailey
Glutaric acidemia type 1 (GA-1, OMIM no. 231670) is an autosomal recessive disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH). The subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly cause injury to the basal ganglia.Roughly 1 of 100,000 infants is affected with GA-1, and a common feature at birth is macrocephaly. Stress, such as in febrile illnesses, can precipitate encephalopathic crises in children generally less than 2 years with variable recovery...
November 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29052812/fumarase-deficiency-a-safe-and-potentially-disease-modifying-effect-of-high-fat-low-carbohydrate-diet
#20
B Ryder, F Moore, A Mitchell, S Thompson, J Christodoulou, S Balasubramaniam
Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC)...
October 21, 2017: JIMD Reports
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