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Article ; Online: Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes.

Kallinikou, Dimitra / Tsentidis, Charalampos / Kekou, Kyriaki / Katsalouli, Marina / Louraki, Maria / Kanaka-Gantenbein, Christina / Kanavakis, Emmanouil / Karavanaki, Kyriaki

Pediatric diabetes

2021 Volume 23, Issue 1, Page(s) 104–114

Abstract: Background: Diabetic neuropathy (DN) is the least recognized complication of diabetes mellitus and may start early in the course of the disease. Aldose reductase (AKR1B1) gene promoter Z-2/Z-2 polymorphism increases the expression of AKR1B1 enzyme and ... ...

Abstract	Background: Diabetic neuropathy (DN) is the least recognized complication of diabetes mellitus and may start early in the course of the disease. Aldose reductase (AKR1B1) gene promoter Z-2/Z-2 polymorphism increases the expression of AKR1B1 enzyme and may contribute to DN. Subjects: We evaluated 108 Type 1 diabetes (T1D) children and adolescents (mean ± SD age: 13.5 ± 3.46 years, disease duration: 5.3 ± 3.4 years) and 150 healthy controls (age: 11.9 ± 2.7 years). Methods: In both groups, pupillary dilation (PD) in darkness, postural blood pressure test (PBPT), and vibration sensation thresholds (VST) in upper and lower limbs were estimated as indices of autonomic and peripheral neuropathy, respectively. Nerve conduction studies (NCS) were performed in patients as peripheral neuropathy index. The polymorphisms of AKR1B1 gene were evaluated using microsatellite (AC)n sequence Z. Results: PBPT, PD, and VST impairments were more frequent in patient group compared with controls, while 38.6% of patients exhibited NCS abnormality. Gender, age, pubertal status, height, body mass index, diabetes duration, HbA1c, and anti-GAD titers were associated with neuropathy indices in patients. There was a strong correlation between PD and NCS in patients, while homozygous patients for Z-2 AKR1B1 gene polymorphism had higher prevalence of abnormal NCS (83.3% vs. 34.6%), PD (62.5% vs. 31.5%), and PBPT values compared with heterozygous or negative patients. Homozygous AKR1B1 status predicted PD, NCS, and PBPT variance, while PD, VST, NCS, and PBPT parameters accurately discriminated homozygous AKR1B1 patients. Conclusions: Impaired indices of peripheral and autonomic DN were present in a significant proportion of young T1D patients. PD, VST, NCS, and PBPT parameters were simultaneously associated with homozygous state of AKR1B1 Z-2 gene polymorphism, implicating polyol metabolism with both autonomic and peripheral neuropathies.
MeSH term(s)	Adolescent ; Aldehyde Reductase/analysis ; Aldehyde Reductase/genetics ; Child ; Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 1/epidemiology ; Diabetes Mellitus, Type 1/genetics ; Diabetic Neuropathies/etiology ; Diabetic Neuropathies/genetics ; Female ; Homozygote ; Humans ; Male ; Polymorphism, Genetic/genetics
Chemical Substances	AKR1B1 protein, human (EC 1.1.1.21) ; Aldehyde Reductase (EC 1.1.1.21)
Language	English
Publishing date	2021-11-24
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	1502504-4
ISSN	1399-5448 ; 1745-1426 ; 1399-543X
ISSN (online)	1399-5448
ISSN	1745-1426 ; 1399-543X
DOI	10.1111/pedi.13285
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Article ; Online: Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Veltra, Danai / Tilemis, Faidon-Nikolaos / Marinakis, Nikolaos M / Svingou, Maria / Mitrakos, Anastasios / Kosma, Konstantina / Tsoutsou, Irene / Makrythanasis, Periklis / Theodorou, Virginia / Katsalouli, Marina / Vorgia, Pelagia / Niotakis, Georgios / Vartzelis, Georgios / Dinopoulos, Argirios / Evangeliou, Athanasios / Mouskou, Stella / Korona, Anastasia / Mastroyianni, Sotiria / Papavasiliou, Antigone /

Tzetis, Maria / Pons, Roser / Traeger-Synodinos, Joanne / Sofocleous, Christalena

Expert review of molecular diagnostics

2023 Volume 23, Issue 1, Page(s) 85–103

Abstract: Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. ... ...

Abstract	Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum of clinical presentations and overlapping phenotypes hinders differential diagnosis and highlights the need for molecular investigations toward delineation of underlying mechanisms and final diagnosis. Characterization of defects may also contribute valuable data on genetic landscapes and networks implicated in epileptogenesis. Methods: This study reports on genetic findings from exome sequencing (ES) data of 107 patients with variable types of seizures, with or without additional symptoms, in the context of neurodevelopmental disorders. Results: Multidisciplinary evaluation of ES, including ancillary detection of copy number variants (CNVs) with the ExomeDepth tool, supported a definite diagnosis in 59.8% of the patients, reflecting one of the highest diagnostic yields in epilepsy. Conclusion: Emerging advances of next-generation technologies and '
MeSH term(s)	Humans ; Exome/genetics ; Epilepsy/diagnosis ; Epilepsy/genetics ; Phenotype ; DNA Copy Number Variations ; Genomics
Language	English
Publishing date	2023-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2112530-2
ISSN	1744-8352 ; 1473-7159
ISSN (online)	1744-8352
ISSN	1473-7159
DOI	10.1080/14737159.2023.2173578
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Article ; Online: Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance.

Mavrogeni, Sophie / Giannakopoulou, Aikaterini / Katsalouli, Marina / Pons, Roser Maria / Papavasiliou, Antigoni / Kolovou, Genovefa / Noutsias, Michel / Papadopoulos, George / Karanasios, Evangelos / Chrousos, George P

Journal of neuromuscular diseases

2019 Volume 7, Issue 1, Page(s) 61–67

Abstract: BackgroundFriedreich's ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity ...

Abstract	BackgroundFriedreich's ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiographic left ventricular (LV) morphologic and functional evaluation. However, further parameters, accessible only by cardiovascular magnetic resonance (CMR), such as myocardial oedema, perfusion defects, replacement and/or diffuse myocardial fibrosis, may have a place in the staging of FA-CA. Our aim was to elucidate the additive value of CMR in FA-CM.MethodsThree FA cases were assessed using ECG, 24 h Holter recording, hsTNT, routine ECHO including wall dimension, valvular and ventricular function evaluation and CMR using 1.5T Ingenia system. Ventricular volumes-function, wall dimensions and fibrosis imaging using late gadolinium enhancement (LGE) was performed.ResultsAll FA patients had non-specific ECG changes, almost normal 24 h Holter recording, mild hypertrophy with normal function assessed by echocardiography and increased hsTNT. However, the CMR evaluation revealed the presence of LGE >5% of LV mass, indicative of severe fibrosis. Therefore, the FA patients were re-categorized as having severe FA-CA, although their LVEF remained normal.ConclusionThe combination of classical diagnostic indices and CMR may reveal early asymptomatic FA-CM and motivate the early initiation of cardiac treatment. Furthermore, these indices can be also used to validate specific treatment targets in FA, potentially useful in the prevention of FA-CM.
MeSH term(s)	Cardiomyopathies/diagnosis ; Cardiomyopathies/etiology ; Friedreich Ataxia/complications ; Friedreich Ataxia/diagnosis ; Humans ; Magnetic Resonance Imaging ; Severity of Illness Index
Language	English
Publishing date	2019-12-03
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ISSN	2214-3602
ISSN (online)	2214-3602
DOI	10.3233/JND-180373
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Article ; Online: Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

Dang, Utkarsh J / Damsker, Jesse M / Guglieri, Michela / Clemens, Paula R / Perlman, Seth J / Smith, Edward C / Horrocks, Iain / Finkel, Richard S / Mah, Jean K / Deconinck, Nicolas / Goemans, Nathalie M / Haberlová, Jana / Straub, Volker / Mengle-Gaw, Laurel / Schwartz, Benjamin D / Harper, Amy / Shieh, Perry B / De Waele, Liesbeth / Castro, Diana /

Yang, Michele L / Ryan, Monique M / McDonald, Craig M / Tulinius, Mar / Webster, Richard I / Mcmillan, Hugh J / Kuntz, Nancy / Rao, Vamshi K / Baranello, Giovanni / Spinty, Stefan / Childs, Anne-Marie / Sbrocchi, Annie M / Selby, Kathryn A / Monduy, Migvis / Nevo, Yoram / Vilchez, Juan J / Nascimento-Osorio, Andres / Niks, Erik H / De Groot, Imelda J M / Katsalouli, Marina / Van Den Anker, John N / Ward, Leanne M / Leinonen, Mika / D'Alessandro, Andrea L / Hoffman, Eric P

Neurology

2024 Volume 102, Issue 5, Page(s) e208112

Abstract: Background and objectives: Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone in Duchenne muscular dystrophy (DMD). This study was conducted to ... ...

Abstract	Background and objectives: Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone in Duchenne muscular dystrophy (DMD). This study was conducted to determine the efficacy and safety of vamorolone over 48 weeks and to study crossover participants (prednisone to vamorolone; placebo to vamorolone). Methods: A randomized, double-blind, placebo-controlled and prednisone-controlled clinical trial of 2 doses of vamorolone was conducted in participants with DMD, in the ages from 4 years to younger than 7 years at baseline. The interventions were 2 mg/kg/d of vamorolone and 6 mg/kg/d of vamorolone for 48 weeks (period 1: 24 weeks + period 2: 24 weeks) and 0.75 mg/kg/d of prednisone and placebo for the first 24 weeks (before crossover). Efficacy was evaluated through gross motor outcomes and safety through adverse events, growth velocity, body mass index (BMI), and bone turnover biomarkers. This analysis focused on period 2. Results: A total of 121 participants with DMD were randomized. Vamorolone at a dose of 6 mg/kg/d showed maintenance of improvement for all motor outcomes to week 48 (e.g., for primary outcome, time to stand from supine [TTSTAND] velocity, week 24 least squares mean [LSM] [SE] 0.052 [0.0130] rises/s vs week 48 LSM [SE] 0.0446 [0.0138]). After 48 weeks, vamorolone at a dose of 2 mg/kg/d showed similar improvements as 6 mg/kg/d for North Star Ambulatory Assessment (NSAA) (vamorolone 6 mg/kg/d-vamorolone 2 mg/kg/d LSM [SE] 0.49 [1.14]; 95% CI -1.80 to 2.78, Discussion: Improvements of motor outcomes seen with 6 mg/kg/d of vamorolone at 24 weeks of treatment were maintained to 48 weeks of treatment. Vamorolone at a dose of 6 mg/kg/d showed better maintenance of effect compared with vamorolone at a dose of 2 mg/kg/d for most (3/5) motor outcomes. Bone morbidities of prednisone (stunting of growth and declines in serum bone biomarkers) were reversed when treatment transitioned to vamorolone. Trial registration information: ClinicalTrials.gov Identifier: NCT03439670. Classification of evidence: This study provides Class I evidence that for boys with DMD, the efficacy of vamorolone at a dose of 6 mg/kg/d was maintained over 48 weeks.
MeSH term(s)	Humans ; Male ; Biomarkers ; Muscular Dystrophy, Duchenne/drug therapy ; Prednisone/adverse effects ; Pregnadienediols/adverse effects ; Child, Preschool ; Child
Chemical Substances	Biomarkers ; Prednisone (VB0R961HZT) ; Pregnadienediols ; VBP15 compound
Language	English
Publishing date	2024-02-09
Publishing country	United States
Document type	Randomized Controlled Trial ; Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000208112
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Article ; Online: Body composition of patients with Duchenne muscular dystrophy: the Greek experience.

Doulgeraki, Artemis E / Athanasopoulou, Helen I / Katsalouli, Marina S / Petrocheilou, Glykeria M / Paspati, Ioanna N / Monopolis, Ioannis K

Acta neurologica Belgica

2016 Volume 116, Issue 4, Page(s) 565–572

Abstract: Greece ranks among the first countries suffering from the obesity epidemic globally. The aim of the study was to evaluate body composition in Greek patients with Duchenne muscular dystrophy (DMD). We hypothesized that able-bodied patients would not ... ...

Abstract	Greece ranks among the first countries suffering from the obesity epidemic globally. The aim of the study was to evaluate body composition in Greek patients with Duchenne muscular dystrophy (DMD). We hypothesized that able-bodied patients would not differ from controls, in terms of adiposity, based on clinical observations during everyday practice. Study design: Cross-sectional study of steroid-dependent DMD subjects, who underwent dual-energy X-ray absorptiometry and laboratory metabolic bone profile evaluation. Forty-two patients and thirty-one controls were studied. Overall, DMD subjects were shorter (height Z-score = -1.4, p = 0.01). Their bone mineral density (BMD) was low (lumbar spine BMD Z-score = -1.2, p < 0.01, subcranial total body BMD Z-score = -1.8, p < 0.01). Lean tissue mass (LTM) was also decreased (LTM Z-score = -2.2, p < 0.01). The above findings were more pronounced in adolescence. Regarding adiposity, increased fat mass (FM) was found only in pubertal DMD patients (FM Z-score = 1.4, p < 0.01), whereas prepubertal, able-bodied patients did not differ from controls, thus confirming the initial hypothesis. Finally, 65 % of DMD subjects had increased bone resorption markers and 57 % had suboptimal vitamin D levels. The importance of using native population as controls for body composition analysis is highlighted. In Greece, abnormal body composition in DMD patients is more striking when loss of ambulation occurs and not during the prepubertal period, due to the concurrent presence of obesity in the pediatric population. Thus, adolescents with this neuromuscular disorder should be targeted toward prompt lifestyle interventions.
MeSH term(s)	Absorptiometry, Photon ; Adolescent ; Body Composition ; Bone Density ; Child ; Cross-Sectional Studies ; Exercise ; Greece ; Humans ; Male ; Muscular Dystrophy, Duchenne
Language	English
Publishing date	2016-12
Publishing country	Italy
Document type	Journal Article
ZDB-ID	127315-2
ISSN	2240-2993 ; 0300-9009
ISSN (online)	2240-2993
ISSN	0300-9009
DOI	10.1007/s13760-015-0582-1
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Article ; Online: The prevalence of early subclinical somatic neuropathy in children and adolescents with Type 1 diabetes mellitus and its association with the persistence of autoantibodies to glutamic acid decarboxylase (GAD) and islet antigen-2 (IA-2).

Louraki, Maria / Katsalouli, Marina / Kanaka-Gantenbein, Christina / Kafassi, Nikolitsa / Critselis, Eleni / Kallinikou, Dimitra / Tsentidis, Charalampos / Karavanaki, Kyriaki

Diabetes research and clinical practice

2016 Volume 117, Page(s) 82–90

Abstract: Aim: To evaluate the prevalence of early somatic neuropathy in children and adolescents with Type 1 diabetes mellitus (Type 1 DM) and its association with the presence of glutamic acid decarboxylase and islet antigen-2 autoantibodies (GADA and IA-2A).!## ...

Abstract	Aim: To evaluate the prevalence of early somatic neuropathy in children and adolescents with Type 1 diabetes mellitus (Type 1 DM) and its association with the presence of glutamic acid decarboxylase and islet antigen-2 autoantibodies (GADA and IA-2A). Methods: A cross-sectional study was conducted in a hospital-based cohort of pediatric Type 1 DM patients (n=85, mean(±SD) age: 13.5±3.4years, mean(±SD) disease duration 5.5±3.4years). Peripheral neuropathy was assessed with nerve conduction studies (NCS). GADA and IA-2A titers were measured with radioligand assays. Results: Among the study population, 34.1% had at least one abnormal electrophysiological parameter, although predominantly asymptomatic. The highest rates of abnormality were detected in sensory peroneal nerve (25.9%) followed by sural nerve (15.3%). Affected patients were not different in terms of age, diabetes duration or glycaemic control. Among the participants, 62.4% had positive GADA, 58.8% positive IA-2A and 42.4% double antibody positivity. Abnormal NCS correlated neither with GADA nor with IA-2A levels or positivity. However lower sensory nerve action potential in the peroneal nerve, indicative of early axonal dysfunction, was observed in patients with GADA or IA-2A positivity. Absence of both antibodies was associated with better action potentials in all the examined nerves of the lower limbs. Conclusions: Impaired indices of subclinical peripheral primarily sensory neuropathy were present among one third of Type 1 DM children and adolescents, with no impact of diabetes duration or glycaemic control. GADA and IA-2A seem to be involved in the development of axonal degeneration, in a pathway which remains to be identified.
MeSH term(s)	Adolescent ; Autoantibodies/blood ; Autoantibodies/immunology ; Blood Glucose/analysis ; Cross-Sectional Studies ; Diabetes Mellitus, Type 1/physiopathology ; Female ; Glutamate Decarboxylase/immunology ; Greece/epidemiology ; Humans ; Male ; Peripheral Nervous System Diseases/epidemiology ; Peripheral Nervous System Diseases/immunology ; Prevalence ; Receptor-Like Protein Tyrosine Phosphatases, Class 8/immunology
Chemical Substances	Autoantibodies ; Blood Glucose ; ICA512 autoantibody ; PTPRN protein, human (EC 3.1.3.48) ; Receptor-Like Protein Tyrosine Phosphatases, Class 8 (EC 3.1.3.48) ; Glutamate Decarboxylase (EC 4.1.1.15)
Language	English
Publishing date	2016-07
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	632523-3
ISSN	1872-8227 ; 0168-8227
ISSN (online)	1872-8227
ISSN	0168-8227
DOI	10.1016/j.diabres.2016.04.044
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Article ; Online: Painful rib hump

Katsalouli Marina / Vasiliadis Elias / Hadzimichalis Socratis / Gkiokas Andreas / Kannas Georgios

Scoliosis, Vol 1, Iss 1, p

a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis

2006 Volume 10

Abstract: Abstract Background Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. ... ...

Abstract	Abstract Background Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature. The aim of this report is to present a case of rib penetration through neural foramen at the apex of a scoliotic curve in neurofibromatosis and to introduce a new clinical sign for its detection. Methods A 13-year-old girl was evaluated for progressive left thoracic kyphoscoliotic curve due to a type I neurofibromatosis. Clinical examination revealed multiple large thoracic and abdominal "cafe-au-lait" spots, neurological impairment of the lower limbs and the presence of a thoracic gibbous that was painful to pressure at the level of the left eighth rib (Painful Rib Hump). CT-scan showed detachment and translocation of the cephalic end of the left eighth rib into the adjacent enlarged neural foramen. The M.R.I. examination of the spine showed neither cord abnormality nor neurogenic tumor. Results The patient underwent resection of the intraspinal mobile eighth rib head and posterior spinal instrumentation and was neurologically fully recovered six months postoperatively. Conclusion Spine surgeons should be aware of intraspinal rib displacement in scoliotic curves in neurofibromatosis. Painful rib hump is a valuable diagnostic tool for this rare clinical entity.
Keywords	Orthopedic surgery ; RD701-811 ; Surgery ; RD1-811 ; Medicine ; R ; DOAJ:Surgery ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Subject code	616
Language	English
Publishing date	2006-06-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
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Article ; Online: Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

Kekou, Kyriaki / Svingou, Maria / Sofocleous, Christalena / Mourtzi, Niki / Nitsa, Evangelia / Konstantinidis, George / Youroukos, Sotiris / Skiadas, Konstantinos / Katsalouli, Marina / Pons, Roser / Papavasiliou, Antigoni / Kotsalis, Charalabos / Pavlou, Evangelos / Evangeliou, Athanasios / Katsarou, Efstathia / Voudris, Konstantinos / Dinopoulos, Argirios / Vorgia, Pelagia / Niotakis, George /

Diamantopoulos, Nikolaos / Nakou, Iliada / Koute, Vasiliki / Vartzelis, George / Papadimas, George-Konstantinos / Papadopoulos, Constantinos / Tsivgoulis, Georgios / Traeger-Synodinos, Joanne

Journal of neuromuscular diseases

2020 Volume 7, Issue 3, Page(s) 247–256

Abstract: Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these ... ...

Abstract	Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. Methods: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. Results: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6). Conclusions: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.
MeSH term(s)	Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Genetic Association Studies ; Greece ; Humans ; Incidence ; Infant ; Male ; Middle Aged ; Muscular Atrophy, Spinal/epidemiology ; Muscular Atrophy, Spinal/genetics ; Prevalence ; Retrospective Studies ; Young Adult
Language	English
Publishing date	2020-05-11
Publishing country	Netherlands
Document type	Journal Article
ISSN	2214-3602
ISSN (online)	2214-3602
DOI	10.3233/JND-190466
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Article ; Online: Painful rib hump: a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis.

Gkiokas, Andreas / Hadzimichalis, Socratis / Vasiliadis, Elias / Katsalouli, Marina / Kannas, Georgios

Scoliosis

2006 Volume 1, Page(s) 10

Abstract: Background: Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only ... ...

Abstract	Background: Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature. The aim of this report is to present a case of rib penetration through neural foramen at the apex of a scoliotic curve in neurofibromatosis and to introduce a new clinical sign for its detection. Methods: A 13-year-old girl was evaluated for progressive left thoracic kyphoscoliotic curve due to a type I neurofibromatosis. Clinical examination revealed multiple large thoracic and abdominal "cafe-au-lait" spots, neurological impairment of the lower limbs and the presence of a thoracic gibbous that was painful to pressure at the level of the left eighth rib (Painful Rib Hump). CT-scan showed detachment and translocation of the cephalic end of the left eighth rib into the adjacent enlarged neural foramen. The M.R.I. examination of the spine showed neither cord abnormality nor neurogenic tumor. Results: The patient underwent resection of the intraspinal mobile eighth rib head and posterior spinal instrumentation and was neurologically fully recovered six months postoperatively. Conclusion: Spine surgeons should be aware of intraspinal rib displacement in scoliotic curves in neurofibromatosis. Painful rib hump is a valuable diagnostic tool for this rare clinical entity.
Language	English
Publishing date	2006-06-14
Publishing country	England
Document type	Journal Article
ISSN	1748-7161
ISSN (online)	1748-7161
DOI	10.1186/1748-7161-1-10
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Article ; Online: Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Guglieri, Michela / Clemens, Paula R / Perlman, Seth J / Smith, Edward C / Horrocks, Iain / Finkel, Richard S / Mah, Jean K / Deconinck, Nicolas / Goemans, Nathalie / Haberlova, Jana / Straub, Volker / Mengle-Gaw, Laurel J / Schwartz, Benjamin D / Harper, Amy D / Shieh, Perry B / De Waele, Liesbeth / Castro, Diana / Yang, Michelle L / Ryan, Monique M /

McDonald, Craig M / Tulinius, Mar / Webster, Richard / McMillan, Hugh J / Kuntz, Nancy L / Rao, Vashmi K / Baranello, Giovanni / Spinty, Stefan / Childs, Anne-Marie / Sbrocchi, Annie M / Selby, Kathryn A / Monduy, Migvis / Nevo, Yoram / Vilchez-Padilla, Juan J / Nascimento-Osorio, Andres / Niks, Erik H / de Groot, Imelda J M / Katsalouli, Marina / James, Meredith K / van den Anker, Johannes / Damsker, Jesse M / Ahmet, Alexandra / Ward, Leanne M / Jaros, Mark / Shale, Phil / Dang, Utkarsh J / Hoffman, Eric P

JAMA neurology

2022 Volume 79, Issue 10, Page(s) 1005–1014

Abstract: Importance: Corticosteroidal anti-inflammatory drugs are widely prescribed but long-term use shows adverse effects that detract from patient quality of life.: Objective: To determine if vamorolone, a structurally unique dissociative steroidal anti- ... ...

Abstract	Importance: Corticosteroidal anti-inflammatory drugs are widely prescribed but long-term use shows adverse effects that detract from patient quality of life. Objective: To determine if vamorolone, a structurally unique dissociative steroidal anti-inflammatory drug, is able to retain efficacy while reducing safety concerns with use in Duchenne muscular dystrophy (DMD). Design, setting, and participants: Randomized, double-blind, placebo- and prednisone-controlled 24-week clinical trial, conducted from June 29, 2018, to February 24, 2021, with 24 weeks of follow-up. This was a multicenter study (33 referral centers in 11 countries) and included boys 4 to younger than 7 years of age with genetically confirmed DMD not previously treated with corticosteroids. Interventions: The study included 4 groups: placebo; prednisone, 0.75 mg/kg per day; vamorolone, 2 mg/kg per day; and vamorolone, 6 mg/kg per day. Main outcomes and measures: Study outcomes monitored (1) efficacy, which included motor outcomes (primary: time to stand from supine velocity in the vamorolone, 6 mg/kg per day, group vs placebo; secondary: time to stand from supine velocity [vamorolone, 2 mg/kg per day], 6-minute walk distance, time to run/walk 10 m [vamorolone, 2 and 6 mg/kg per day]; exploratory: NorthStar Ambulatory Assessment, time to climb 4 stairs) and (2) safety, which included growth, bone biomarkers, and a corticotropin (ACTH)-challenge test. Results: Among the 133 boys with DMD enrolled in the study (mean [SD] age, 5.4 [0.9] years), 121 were randomly assigned to treatment groups, and 114 completed the 24-week treatment period. The trial met the primary end point for change from baseline to week 24 time to stand velocity for vamorolone, 6 mg/kg per day (least-squares mean [SE] velocity, 0.05 [0.01] m/s vs placebo -0.01 [0.01] m/s; 95% CI, 0.02-0.10; P = .002) and the first 4 sequential secondary end points: time to stand velocity, vamorolone, 2 mg/kg per day, vs placebo; 6-minute walk test, vamorolone, 6 mg/kg per day, vs placebo; 6-minute walk test, vamorolone, 2 mg/kg per day, vs placebo; and time to run/walk 10 m velocity, vamorolone, 6 mg/kg per day, vs placebo. Height percentile declined in prednisone-treated (not vamorolone-treated) participants (change from baseline [SD]: prednisone, -1.88 [8.81] percentile vs vamorolone, 6 mg/kg per day, +3.86 [6.16] percentile; P = .02). Bone turnover markers declined with prednisone but not with vamorolone. Boys with DMD at baseline showed low ACTH-stimulated cortisol and high incidence of adrenal insufficiency. All 3 treatment groups led to increased adrenal insufficiency. Conclusions and relevance: In this pivotal randomized clinical trial, vamorolone was shown to be effective and safe in the treatment of boys with DMD over a 24-week treatment period. Vamorolone may be a safer alternative than prednisone in this disease, in which long-term corticosteroid use is the standard of care. Trial registration: ClinicalTrials.gov Identifier: NCT03439670.
MeSH term(s)	Adrenal Cortex Hormones ; Adrenal Insufficiency/chemically induced ; Adrenal Insufficiency/drug therapy ; Adrenocorticotropic Hormone/therapeutic use ; Anti-Inflammatory Agents/adverse effects ; Biomarkers ; Child, Preschool ; Double-Blind Method ; Humans ; Hydrocortisone/therapeutic use ; Male ; Muscular Dystrophy, Duchenne/drug therapy ; Prednisone/therapeutic use ; Quality of Life ; Treatment Outcome
Chemical Substances	Adrenal Cortex Hormones ; Anti-Inflammatory Agents ; Biomarkers ; Adrenocorticotropic Hormone (9002-60-2) ; Prednisone (VB0R961HZT) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2022-08-29
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Randomized Controlled Trial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2702023-X
ISSN	2168-6157 ; 2168-6149
ISSN (online)	2168-6157
ISSN	2168-6149
DOI	10.1001/jamaneurol.2022.2480
Database	MEDical Literature Analysis and Retrieval System OnLINE

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