Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

2001 ◽  
Vol 160 (5) ◽  
pp. 267-276 ◽  
Author(s):  
Aleš Dudešek ◽  
Wulf Röschinger ◽  
Ania C. Muntau ◽  
Jörg Seidel ◽  
Dorothea Leupold ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Long Term Follow Up

scholarly journals Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

2020 ◽  
Vol 8 (8) ◽  
pp. 1369-1375
Author(s):  
Sheng Mou Lin ◽  
Ho Ming Luk ◽  
Ivan Fai Man Lo ◽  
Wai‐Keung Tam ◽  
Kelvin Yuen Kwong Chan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Chinese Patient ◽  
Long Term Follow Up ◽  
Mosaic Variegated Aneuploidy

scholarly journals Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome

2020 ◽  
Author(s):  
Sue M. Huson ◽  
Timo Staab ◽  
Marta Pereira ◽  
Heather Ward ◽  
Roberto Paredes ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Chromosomal Instability ◽  
Fusion Transcript ◽  
Bloom Syndrome ◽  
Sequence Variants ◽  
Infantile Fibrosarcoma ◽  
Pathogenic Variants ◽  
Long Term Follow Up

AbstractBloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c.2207_2212delinsTAGATTC). This is the first report of IFS related to BS, for which we show that both BLM alleles are maintained in the tumor and demonstrate a TPM3-NTKR1 fusion transcript in the IFS. Our communication emphasizes the importance of long-term follow up after treatment for pediatric neoplastic conditions, as clues to important genetic entities might manifest later, and the identification of a heritable tumor predisposition often leads to changes in patient surveillance and management.

scholarly journals A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation

2008 ◽  
Vol 52 (8) ◽  
pp. 1337-1344 ◽  
Author(s):  
Ileana G. S. Rubio ◽  
Ana Luiza Galrao ◽  
Viviane Pardo ◽  
Meyer Knobel ◽  
Roberta F. Possato ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Congenital Hypothyroidism ◽  
Thyroid Tissue ◽  
Endoplasmatic Reticulum ◽  
Iodine Nutrition ◽  
Genes Expression ◽  
Long Term Follow Up ◽  
Tissue Specimens

OBJECTIVE: To extend the molecular analysis of the IVS30+1G>T intronic thyroglobulin (TG) mutation, and to report the eleven year follow-up of the affected patients. METHOSD: Two siblings with severe congenital hypothyroidism with fetal and neonatal goiter, harboring the IVS30+1G>T mutation were included. Nodular and non-nodular thyroid tissue specimens were collected. Specific thyroid genes expression was evaluated by real-timePCR and by immunohistochemistry. RESULTS: In non-nodular tissue specific thyroid genes mRNA were reduced when compared to normal thyroid sample. In the nodule, TPO and NIS expression was very low. Microscopic examinations showed very large follicular-lumina and swollen vesicles of endoplasmatic-reticulum. Strong cytoplasmatic and low follicular-lumen TG immunostaining were detected. Intracellular NIS, membrane TPO and TSHR immunostaining had higher positivity in non-nodular sample. Both patients had a long-term adequate developmental outcome, besides one patient have been lately-treated. CONCLUSIONS: IVS30+1G>T mutation not only lead to very enlarge endoplasmatic-reticulum, but also to alterations of specific thyroid genes expression. The clinical evolution of patients harboring these mutations strengthen the concept of the influence of environment, like iodine nutrition, to determine the final phenotypic appearance.

scholarly journals Clinical features and molecular analysis of arginine-vasopressin neurophysin II gene in long-term follow-up patients with idiopathic central diabetes insipidus

2010 ◽  
Vol 54 (3) ◽  
pp. 269-273 ◽  
Author(s):  
Sergio L. Batista ◽  
Ayrton C. Moreira ◽  
Jose Antunes-Rodrigues ◽  
Margaret de Castro ◽  
Lucila L. K. Elias ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Clinical Features ◽  
Molecular Analysis ◽  
Arginine Vasopressin ◽  
Central Diabetes Insipidus ◽  
Sequencing Analysis ◽  
Long Term Follow Up ◽  
Intron 2

INTRODUCTION: Central diabetes insipidus (DI) characterized by polyuria, polydipsia and inability to concentrate urine, has different etiologies including genetic, autoimmune, post-traumatic, among other causes. Autosomal dominant central DI presents the clinical feature of a progressive decline of arginine-vasopressin (AVP) secretion. OBJECTIVE: In this study, we characterized the clinical features and sequenced the AVP-NPII gene of seven long-term follow-up patients with idiopathic central DI in an attempt to determine whether a genetic cause would be involved. METHODS: The diagnosis of central DI was established by fluid deprivation test and hyper-tonic saline infusion. For molecular analysis, genomic DNA was extracted and the AVP-NPII gene was amplified by polymerase chain reaction and sequenced. RESULTS: Sequencing analysis revealed a homozygous guanine insertion in the intron 2 (IVS2 +28 InsG) of the AVP-NPII gene in four patients, which represents an alternative gene assembly. No mutation in the code region of the AVP-NPII gene was found. CONCLUSIONS: The homozygous guanine insertion in intron 2 (IVS2 +28 InsG) is unlikely to contribute to the AVP-NPII gene modulation in DI. In addition, the etiology of idiopathic central DI in children may not be apparent even after long-term follow-up, and requires continuous etiological surveillance.

scholarly journals Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Diagnostics ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 738
Author(s):  
Edyta Szymańska ◽  
Aleksandra Jezela-Stanek ◽  
Anna Bogdańska ◽  
Dariusz Rokicki ◽  
Ewa Ehmke vel Emczyńska-Seliga ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Clinical State ◽  
Neurological Outcomes ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Long Term Follow Up ◽  
Isovaleric Aciduria

Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of this study was to analyze clinical and neurological outcomes in Polish patients with IVA. Ten patients diagnosed and treated in The Children’s Memorial Health Institute were included in the study. The diagnosis was based on tandem MS (increased level of C5 acylcarnitine) and urine GCMS (increased isovalerylglycine, and 3-hydroxyisovaleric acid). Molecular analysis was performed in seven patients (70%) leading to the detection of pathogenic variants in the IVD gene in all of them. A retrospective analysis of patients’ medical records included: demographics, symptoms at diagnosis, medical management, and biochemical and clinical outcomes following therapy. The median follow-up time (median; Q1–Q2) was 2.5 years (1.5–9.0) for newborn screening (NBS) and family screening (FS) children, and 17 years (5.0–20) for symptomatic patients. Five patients were in a good clinical state, four children presented mild neurological symptoms, and one—severely delayed child. In the IVD gene, five known and two novel variants (p.466C>G, c.1132G>A) were identified. Molecular analysis was performed in seven patients leading to identification of biallelic pathogenic variants in the IVD gene in all of them. We can conclude that long-term clinical and neurological outcomes of patients with IVA were satisfactory as a result of an early diagnosis and proper management. Although early treatment did not prevent decompensations, they were milder in these patients.

Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

2019 ◽  
Vol 42 ◽  
Author(s):  
John P. A. Ioannidis
Keyword(s):  
Mental Health ◽  
Mental Disease ◽  
Brain Disorders ◽  
Social Stressors ◽  
Labor Education ◽  
Mental Diseases ◽  
Long Term Follow Up ◽  
Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

A comparison of two approaches to biofeedback treatment in children with recalcitrant constipation/encopresis. Long term follow up

2001 ◽  
Vol 120 (5) ◽  
pp. A397-A397
Author(s):  
M SAMERAMMAR ◽  
J CROFFIE ◽  
M PFEFFERKORN ◽  
S GUPTA ◽  
M CORKINS ◽  
...  
Keyword(s):  
Long Term Follow Up ◽  
Biofeedback Treatment

Endoscopic sphiecterotomy without cholecystectomy for prevention of recurrence of acute billary pancreatitis: Long-term follow-up of 73 patients

2001 ◽  
Vol 120 (5) ◽  
pp. A204-A204
Author(s):  
B GONZALEZCONDE ◽  
J VAZQUEZIGLESIAS ◽  
L LOPEZROSES ◽  
P ALONSOAGUIRRE ◽  
A LANCHO ◽  
...  
Keyword(s):  
Long Term Follow Up ◽  
Prevention Of Recurrence
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