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.

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.

Endoscopic thoracic microdiscectomy

2005 ◽  
Vol 3 (6) ◽  
pp. 459-464 ◽  
Author(s):  
Rod J. Oskouian ◽  
J. Patrick Johnson
Keyword(s):  
Hospital Length ◽  
Outcome Data ◽  
Hospital Length Of Stay ◽  
Content Type ◽  
Neurological Outcomes ◽  
Long Term Follow Up ◽  
Thoracic Disc ◽  
Fine Print

Object. The purpose of this clinical study was to evaluate prospectively surgical and neurological outcomes after endoscopic thoracic disc surgery. Methods. The authors assessed the following quantifiable outcome data in 46 patients: operative time, blood loss, duration of chest tube insertion, narcotic use, hospital length of stay (LOS), and long-term follow-up neurological function and pain-related symptoms. In patients who presented with myelopathy there was a postoperative improvement of two Frankel grades. Pain related to radiculopathy was improved by 75% and in one patient it worsened postoperatively. The authors also present operative data, surgical outcomes, and complications. Conclusions. Thoracoscopic discectomy can be used to achieve acceptable results. It has several distinct advantages such as reduced postoperative pain, morbidity, and LOS compared with traditional open procedures.

The outcome of tethered cord release in secondary and multiple repeat tethered cord syndrome

2009 ◽  
Vol 4 (1) ◽  
pp. 28-36 ◽  
Author(s):  
Wajd N. Al-Holou ◽  
Karin M. Muraszko ◽  
Hugh J. Garton ◽  
Steven R. Buchman ◽  
Cormac O. Maher
Keyword(s):  
Spinal Cord ◽  
Primary Repair ◽  
Tethered Cord ◽  
Tethered Cord Syndrome ◽  
Neurological Outcomes ◽  
Younger Age ◽  
Long Term Follow Up ◽  
Multiple Repeat

Object After primary repair of a myelomeningocele or a lipomyelomeningocele, patients can present with symptoms of secondary tethered cord syndrome (TCS). After surgical untethering, a small percentage of these patients can present with multiple repeat TCS. In patients presenting with secondary or multiple repeat TCS, the role as well the expected outcomes of surgical untethering are not well defined. Methods Eighty-four patients who underwent spinal cord untethering after at least 1 primary repair were retrospectively evaluated using scaled and subjective outcome measures at short-term and long-term follow-up visits. Outcomes were analyzed for predictive measures using multivariate logistic regression. Results Surgical untethering was performed in 66 patients with myelomeningoceles and 18 patients with lipomyelomeningoceles. Fourteen patients underwent multiple repeat spinal cord untethering. Patients were followed up for an average of 6.2 years. Most patients had stability of function postoperatively. Motor function and weakness improved in 7 and 16% of patients at 6 months, respectively, and 6 and 19% of patients at long-term follow-up evaluation, respectively. Of the patients who presented with back pain, 75% had improvement in symptoms at 6 months postoperatively. Younger age at untethering was significantly associated with worse long-term neurological outcomes. The number of previous untethering procedures, original diagnosis, sex, anatomical level, and degree of untethering had no effect on surgical outcomes. Conclusions Patients presenting with secondary or multiple repeat TCS may benefit from surgical untethering.

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

2021 ◽  
pp. 088307382110047
Author(s):  
Özlem Akgün-Doğan ◽  
Pelin Ozlem Simsek-Kiper ◽  
Ekim Taşkıran ◽  
Anna Schossig ◽  
Gülen Eda Utine ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Epileptic Encephalopathy ◽  
Clinical Findings ◽  
Global Developmental Delay ◽  
Molecular Characteristics ◽  
Long Term Follow Up ◽  
Main Components

Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Mutations in ROGDI (MIM 226750) and SLC13A5 (MIM 615905) are responsible for Kohlschütter-Tönz syndrome. Here, we report on the clinical and molecular characteristics of 3 individuals from 2 families, all harboring the same homozygous novel deleterious variant in ROGD1, along with a long-term follow-up and review of the literature. Although the phenotypic features are almost consistent in Kohlschütter-Tönz syndrome, overlooking dental findings and diverse degrees of variability in clinical findings makes diagnosis challenging occasionally. Because there is a limited number of reported patients, identification of new patients and delineation of clinical and molecular findings will increase the awareness of clinicians and enable establishing genotype-phenotype correlations.

Long term follow-up of bifurcation aneurysms treated with braided stent assisted coiling and complex T- and Y- stent constructs

2017 ◽  
Vol 10 (6) ◽  
pp. 560-565 ◽  
Author(s):  
Nicholas K Cheung ◽  
Albert HY Chiu ◽  
Andrew Cheung ◽  
Jason D Wenderoth
Keyword(s):  
Clinical Assessment ◽  
Thromboembolic Events ◽  
Modified Rankin Scale ◽  
Radiological Assessment ◽  
Neurological Outcomes ◽  
Long Term Follow Up ◽  
Aneurysm Occlusion ◽  
Braided Stent

BackgroundStent assisted coil embolization (SACE) of bifurcation aneurysms is challenging. Heterogeneous results have been achieved to date, but largely for laser cut stents. While braided stents offer multiple technical advantages, their long term efficacy has yet to be validated.ObjectiveTo report the first long term 18 month results for the durability of bifurcation aneurysms treated with braided stents.Materials and methodsOver a 4 year period, 59 consecutive patients with 60 bifurcation aneurysms underwent elective braided SACE across three Australian neurovascular centers. 17 of these aneurysms underwent T- or Y-shaped stent constructs. All patients had immediate, 6 month and 18 month clinical and radiological follow-up. Radiological assessment was made on modified Raymond–Roy occlusion scores while clinical assessment was based on the modified Rankin Scale. Subgroup analysis of 17 aneurysms treated with multi-stent constructs was conducted.Results6 month follow-up data were available for 59 aneurysms and 18 month follow-up data for 58 aneurysms. Satisfactory aneurysm occlusion was achieved in 97% at inception and at 6 months, and 98% at 18 months. Good neurological outcomes were achieved in 95% at 18 months. Similar satisfactory results were achieved with the multi-stent construct cohort. Intraprocedural thromboembolic events were recorded in 5% and delayed events in 2%. Technical complications were found in 5%. All complication rate was 13%.ConclusionBraided SACE was safe, efficacious, and durable at the long term 18 month follow-up, including for multi-stent constructs. Preliminary results indicate favorable clinical and radiological outcomes compared with laser cut stents.

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 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.

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