TY  - JOUR
A1  - Hofmann, Ulf Krister
A1  - Keller, Ramona Luise
A1  - Walter, Christian
A1  - Mittag, Falk
T1  - Predictability of the effects of facet joint infiltration in the degenerate lumbar spine when assessing MRI scans
JF  - Journal of Orthopaedic Surgery and Research
N2  - Background
Imaging results are frequently considered as hallmarks of disease by spine surgeons to plan their future treatment strategy. Numerous classification systems have been proposed to quantify or grade lumbar magnetic resonance imaging (MRI) scans and thus objectify imaging findings. The clinical impact of the measured parameters remains, however, unclear. To evaluate the pathological significance of imaging findings in patients with multisegmental degenerative findings, clinicians can perform image-guided local infiltrations to target defined areas such as the facet joints.

The aim of the present retrospective study was to evaluate the correlation of MRI facet joint degeneration and spinal stenosis measurements with improvement obtained by image-guided intraarticular facet joint infiltration.

Methods
Fifty MRI scans of patients with chronic lumbar back pain were graded radiologically using a wide range of classification and measurement systems. The reported effect of facet joint injections at the site was recorded, and a comparative analysis performed.

Results
When we allocated patients according to their reported pain relief, 27 showed no improvement (0–30%), 16 reported good improvement (31–75%) and 7 reported excellent improvement (> 75%). MRI features assessed in this study did, however, not show any relevant correlation with reported pain after facet joint infiltration: Values for Kendall’s tau ranged from \(\tau\) = − 0.190 for neuroforaminal stenosis grading as suggested by Lee, to \(\tau\) = 0.133 for posterior disc height as proposed by Hasegawa.

Conclusion
Despite the trend in evidence-based medicine to provide medical algorithms, our findings underline the continuing need for individualised spine care that, along with imaging techniques or targeted infiltrations, includes diagnostic dimensions such as good patient history and clinical examination to formulate a diagnosis.

Trial registration
ClinicalTrials.gov, NCT03308149, retrospectively registered October 2017
KW  - medicine
KW  - lumbar spinal stenosis
KW  - lumbar degenerative disease
KW  - MRI
KW  - facet joint degeneration
KW  - facet joint injection
Y1  - 2017
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-173027
VL  - 12
ER  - 
TY  - JOUR
A1  - Vona, Barbara
A1  - Maroofian, Reza
A1  - Bellacchio, Emanuele
A1  - Najafi, Maryam
A1  - Thompson, Kyle
A1  - Alahmad, Ahmad
A1  - He, Langping
A1  - Ahangari, Najmeh
A1  - Rad, Abolfazl
A1  - Shahrokhzadeh, Sima
A1  - Bahena, Paulina
A1  - Mittag, Falk
A1  - Traub, Frank
A1  - Movaffagh, Jebrail
A1  - Amiri, Nafise
A1  - Doosti, Mohammad
A1  - Boostani, Reza
A1  - Shirzadeh, Ebrahim
A1  - Haaf, Thomas
A1  - Diodato, Daria
A1  - Schmidts, Miriam
A1  - Taylor, Robert W.
A1  - Karimiani, Ehsan Ghayoor
T1  - Expanding the clinical phenotype of IARS2-related mitochondrial disease
JF  - BMC Medical Genetics
N2  - Background:
IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes with autosomal recessive inheritance. These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies.

Methods:
Genomic DNA from Iranian probands from two families with consanguineous parental background and overlapping CAGSSS features were subjected to exome sequencing and bioinformatics analysis.

Results:
Exome sequencing and data analysis revealed a novel homozygous missense variant (c.2625C > T, p.Pro909Ser, NM_018060.3) within a 14.3 Mb run of homozygosity in proband 1 and a novel homozygous missense variant (c.2282A > G, p.His761Arg) residing in an ~ 8 Mb region of homozygosity in a proband of the second family. Patient-derived fibroblasts from proband 1 showed normal respiratory chain enzyme activity, as well as unchanged oxidative phosphorylation protein subunits and IARS2 levels. Homology modelling of the known and novel amino acid residue substitutions in IARS2 provided insight into the possible consequence of these variants on function and structure of the protein.

Conclusions:
This study further expands the phenotypic spectrum of IARS2 pathogenic variants to include two patients (patients 2 and 3) with cataract and skeletal dysplasia and no other features of CAGSSS to the possible presentation of the defects in IARS2. Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II esophageal achalasia and proposes that a variable sensorineural hearing loss onset, proportionate short stature, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1. Our findings support that even though biallelic IARS2 pathogenic variants can result in a distinctive, clinically recognisable phenotype in humans, it can also show a wide range of clinical presentation from severe pediatric neurological disorders of Leigh and West syndrome to both non-syndromic cataract and cataract accompanied by skeletal dysplasia.
KW  - adrenal insufficiency
KW  - CAGSSS
KW  - cataracts
KW  - growth hormone deficiency
KW  - IARS2
KW  - sensory neuropathy
KW  - sensorineural hearing loss
KW  - type II esophageal achalasia
KW  - skeletal dysplasia
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-176620
VL  - 19
IS  - 196
ER  -