Predictors of Long-Term Outcome of Convulsive Disorders in the First Year of Life: Clinical Usefulness of Five Risk Factors

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

10.21203/rs.2.17759/v2 ◽

2020 ◽

Author(s):

Sarah Catharina Grünert ◽

Jörn Oliver Sass

Keyword(s):

Autosomal Recessive ◽

Coenzyme A ◽

Autosomal Recessive Disorder ◽

First Year ◽

Metabolic Decompensation ◽

Term Outcome ◽

Long Term Outcome ◽

Lyase Deficiency ◽

First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. Results More than 95 % of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4 % already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6 % of patients showing normal development. Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

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Motor Development of Premature Infants Born between 32 and 34 Weeks

International Journal of Pediatrics ◽

10.1155/2010/462048 ◽

2010 ◽

Vol 2010 ◽

pp. 1-4 ◽

Cited By ~ 20

Author(s):

S. A. Prins ◽

J. S. von Lindern ◽

S. van Dijk ◽

F. G. A. Versteegh

Keyword(s):

Motor Development ◽

Late Preterm ◽

First Year ◽

Term Outcome ◽

Long Term Outcome ◽

Normal Outcome ◽

Movement Assessment ◽

Preterm Born ◽

First Year Of Life

Little is known about motor development in late preterm born infants. Our objective was to determine long-term outcome of motor skills of infants born between 32 and 34 weeks. All infants were assessed at corrected ages of 3 and 9 months, using the Alberta Infant Motor Scale. At corrected ages of 4 years, the Movement Assessment Battery for Children was done. Seventy infants were seen at 4 years of age (median of 3 assessments per infant). Abnormal assessment at 3 or 9 months of age resulted in normal outcome in almost 80% at 4 years. On the other hand, a normal outcome in the first year of life resulted in an abnormal outcome at 4 years in 10% of the infants. Our results suggest that long-term followup of these late preterm born infants is necessary, as the assessments in the first year do not predict the long-term outcome.

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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

10.21203/rs.2.17759/v1 ◽

2019 ◽

Author(s):

Sarah Catharina Grünert ◽

Jörn Oliver Sass

Keyword(s):

Autosomal Recessive ◽

Coenzyme A ◽

Autosomal Recessive Disorder ◽

First Year ◽

Metabolic Decompensation ◽

Term Outcome ◽

Long Term Outcome ◽

Lyase Deficiency ◽

First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL .Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided.Results More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development.Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

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3291Achieved biventricular pacing during the first year of follow-up predicts long-term outcome in patients with heart failure treated with cardiac resynchronization therapy

European Heart Journal ◽

10.1093/eurheartj/ehy563.3291 ◽

2018 ◽

Vol 39 (suppl_1) ◽

Author(s):

J Jacobsson ◽

C Reitan ◽

R Borgquist ◽

P Platonov

Keyword(s):

Heart Failure ◽

Biventricular Pacing ◽

Cardiac Resynchronization ◽

First Year ◽

Resynchronization Therapy ◽

Term Outcome ◽

Long Term Outcome ◽

Patients With Heart Failure

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P146 Disease progression in del (5q) MDS patients treated with lenalidomide: analysis of risk factors and long-term outcome in 44 patients

Leukemia Research ◽

10.1016/s0145-2126(07)70216-3 ◽

2007 ◽

Vol 31 ◽

pp. S120-S121

Author(s):

A.A.N. Giagounidis ◽

S. Haase ◽

V. Lohrbacher ◽

M. Heinsch ◽

B. Schuran ◽

...

Keyword(s):

Risk Factors ◽

Disease Progression ◽

Term Outcome ◽

Long Term Outcome

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Long-term outcome of seizure-free patients and risk factors of relapse following antiepileptic drug withdrawal

Epilepsy & Behavior ◽

10.1016/j.yebeh.2018.09.028 ◽

2018 ◽

Vol 88 ◽

pp. 295-300 ◽

Cited By ~ 1

Author(s):

Shuchun Ou ◽

Lu Xia ◽

Rong Li ◽

Li Wang ◽

Li Xia ◽

...

Keyword(s):

Risk Factors ◽

Antiepileptic Drug ◽

Drug Withdrawal ◽

Term Outcome ◽

Long Term Outcome ◽

Antiepileptic Drug Withdrawal

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Predictors for the Immediate and Long-Term Outcome of Avascular Surgical Procedure

Scandinavian Journal of Surgery ◽

10.1177/145749690909800307 ◽

2009 ◽

Vol 98 (3) ◽

pp. 164-168 ◽

Cited By ~ 4

Author(s):

J. Virkkunen ◽

M. Venermo ◽

J. Saarinen ◽

J. Salenius

Keyword(s):

Risk Factors ◽

Risk Factor ◽

High Risk ◽

Predictive Value ◽

Surgical Procedure ◽

Operative Mortality ◽

Survival Rates ◽

Term Outcome ◽

Long Term Outcome

Background and Aims: The ability to predict post-operative mortality reliably will be of assistance in making decisions concerning the treatment of an individual patient. The aim of this study was to test the GAS score as a predictor of post-operative mortality in vascular surgical patients. Material and Methods: A total of 157 consecutive patients who underwent an elective vascular surgical procedure were included in the study. The Cox proportional hazards model was used in analyzing the importance of various preoperative risk factors for the postoperative outcome. ASA and GAS were tested in predicting the short and long-term outcome. On the basis of the GAS cut-off value 77, patients were selected into low-risk (GAS low: GAS < 77) and high-risk (GAS high: GAS > = 77) groups, and the examined risk factors were analyzed to determine which of them had predictive value for the prognosis. Results: None of the patients in the GAS low group died, and mortality in the GAS high group was 4.8% (p = 0.03) at 30 days' follow-up. The 12-month survival rates were 98.6% and 78.6% (p = 0.0001), respectively, with the respective 5-year survival rates of 76.7% and 44.0% (p = 0.0001). The only independent risk factor for 30-day mortality was the renal risk factor (OR 20.2). The combination of all three GAS variables(chronic renal failure, cardiac disease and cerebrovascular disease), excluding age, was associated with a 100% two-year mortality. Conclusions: Mortality is low for patients with GAS<77. For the high-risk patients (GAS> = 77), due to its low predictive value for death, GAS yields limited value in clinical practice. In cases of patients with all three risk factors (renal, cardiac and cerebrovascular), vascular surgery should be considered very carefully.

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