scholarly journals Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Amira Mobarak ◽  
Heba Dawoud ◽  
Hanaa Nofal ◽  
Amr Zoair
Keyword(s):  
Protein Intake ◽  
Clinical Course ◽  
Age Of Onset ◽  
Length Of Hospital Stay ◽  
Ammonia Level ◽  
Strong Negative Correlation ◽  
Natural Protein ◽  
Proactive Management ◽  
Increased Risk

Propionic and methylmalonic acidemias result in multiple health problems including increased risk for neurological and intellectual disabilities. Knowledge regarding factors that correlate to poor prognosis and long-term outcomes is still limited. In this study, we aim to provide insight concerning clinical course and long-term complications by identifying possible correlating factors to complications. Results. This is a retrospective review of 20 Egyptian patients diagnosed with PA (n = 10) and MMA (n = 10) in the years 2014–2018. PA patients had lower DQ/IQ and were more liable to hypotonia and developmental delay. The DQ/IQ had a strong negative correlation with length of hospital stay, frequency of PICU admissions, time delay until diagnosis, and the mode ammonia level. However, DQ/IQ did not correlate with age of onset of symptoms or the peak ammonia level at presentation. Both the growth percentiles and albumin levels had a positive correlation with natural protein intake and did not correlate with the total protein intake. Additionally, patients on higher amounts of medical formula did not necessarily show an improvement in the frequency of decompensation episodes. Conclusion. Our findings indicate that implementation of NBS, vigilant and proactive management of decompensation episodes, and pursuing normal ammonia levels during monitoring can help patients achieve a better neurological prognosis. Furthermore, patients can have a better outcome on mainly natural protein; medical formula should only be used in cases where patients do not meet 100–120% of their DRI from natural protein.

scholarly journals A perspective on persistent toxicants in veterans and amyotrophic lateral sclerosis: identifying exposures determining higher ALS risk

2022 ◽  
Author(s):  
Diane B. Re ◽  
Beizhan Yan ◽  
Lilian Calderón-Garcidueñas ◽  
Angeline S. Andrew ◽  
Maeve Tischbein ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Military Personnel ◽  
Age Of Onset ◽  
Chemical Elements ◽  
Engine Exhaust ◽  
Airline Pilots ◽  
Increased Risk ◽  
Polycyclic Aromatic ◽  
Lateral Sclerosis

AbstractMultiple studies indicate that United States veterans have an increased risk of developing amyotrophic lateral sclerosis (ALS) compared to civilians. However, the responsible etiological factors are unknown. In the general population, specific occupational (e.g. truck drivers, airline pilots) and environmental exposures (e.g. metals, pesticides) are associated with an increased ALS risk. As such, the increased prevalence of ALS in veterans strongly suggests that there are exposures experienced by military personnel that are disproportionate to civilians. During service, veterans may encounter numerous neurotoxic exposures (e.g. burn pits, engine exhaust, firing ranges). So far, however, there is a paucity of studies investigating environmental factors contributing to ALS in veterans and even fewer assessing their exposure using biomarkers. Herein, we discuss ALS pathogenesis in relation to a series of persistent neurotoxicants (often emitted as mixtures) including: chemical elements, nanoparticles and lipophilic toxicants such as dioxins, polycyclic aromatic hydrocarbons and polychlorinated biphenyls. We propose these toxicants should be directly measured in veteran central nervous system tissue, where they may have accumulated for decades. Specific toxicants (or mixtures thereof) may accelerate ALS development following a multistep hypothesis or act synergistically with other service-linked exposures (e.g. head trauma/concussions). Such possibilities could explain the lower age of onset observed in veterans compared to civilians. Identifying high-risk exposures within vulnerable populations is key to understanding ALS etiopathogenesis and is urgently needed to act upon modifiable risk factors for military personnel who deserve enhanced protection during their years of service, not only for their short-term, but also long-term health.

The impact of Cannabis in Schizophrenia: Pafip Three-year Longitudinal Study on Outcome and Functionality After a First Episode of Psychosis

2017 ◽  
Vol 41 (S1) ◽  
pp. S136-S137
Author(s):  
M. Gomez Revuelta ◽  
M. Juncal Ruiz ◽  
O. Porta Olivares ◽  
M. Fernández Rodríguez ◽  
D. Abejas Díez ◽  
...  
Keyword(s):  
Intervention Program ◽  
Age Of Onset ◽  
Cannabis Use ◽  
First Episode ◽  
Long Term Outcome ◽  
Clinical Prognosis ◽  
Increased Risk ◽  
The Impact

IntroductionThe association between cannabis and psychosis makes crucial the intervention on cannabis use disorder at first episodes of psychosis (FEP), especially among young population. In this group of patients, the harmful potential of cannabis is more evident by its influence on neurodevelopment. However, the nature of the association cannabis-psychosis is not clearly described. It seems to represent a mediating factor for an increased risk of psychosis in healthy and high-risk populations, determining an earlier age of onset and worsening long term outcome.ObjectivesTo assess the impact of cannabis in terms of functional and clinical prognosis in patients recruited after a FEP.Material and methodsPAFIP is an early intervention program for early stages of psychosis. One hundred and sixty-three were included, followed-up at regular intervals of six months for three years with administration of clinical and functional scales (BPRS, SAPS, SANS, CDRS, GAF and Drake). Patients were divided into three groups: (1) those non-users neither before the onset nor during follow-up (nn) PEP, (2) consumers before the FEP and during follow-up (ss) and (3) consumers before the FEP that gave up consumption during follow-up (sn).ResultsNo statistically significant differences were observed in terms of functionality at three-year follow-up endpoint but a trend to a better-preserved functionality in the sn group. The sn group presented lower scores in scales for positive symptoms with respect to the comparison groups.ConclusionsThe interruption in cannabis use may have a beneficial effect on short-term clinical prognosis and functionality on long term.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 128
Author(s):  
Agnieszka Kowalik ◽  
Anita MacDonald ◽  
Jolanta Sykut-Cegielska
Keyword(s):  
Amino Acids ◽  
Clinical Course ◽  
Dietary Treatment ◽  
Methylmalonic Aciduria ◽  
Psychomotor Development ◽  
Long Term Outcome ◽  
Natural Protein ◽  
Long Term Treatment

Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity and clinical course of the disease. The experience and approach to MMA treatment in European centers is variable with different amounts of natural protein and precursor-free l-amino acids being prescribed, although the outcome appears independent of the use of precursor-free l-amino acids. Further long-term outcome data is necessary for early treated patients with MMA. This case study, a woman with MMA followed from birth to the age of 35 years, including pregnancy, illustrates the long-term course of the disease and lifetime changes in dietary treatment. A low natural protein diet (1.5 g–1.0 g/kg/day) was the foundation of treatment, but temporary supplementation with precursor-free l-amino acids, vitamin-mineral mixture, and energy supplements were necessary at different timepoints (in childhood, adolescence, adulthood and pregnancy). Childhood psychomotor development was slightly delayed but within the normal range in adulthood. There were few episodes of metabolic decompensation requiring IV glucose, but at age 27 years, she required intensive care following steroid treatment. In pregnancy, she remained stable but received intensive biochemical and medical follow-up. This successful long-term follow-up of a patient with MMA from childhood, throughout pregnancy, delivery, and postpartum confirms that careful clinical, biochemical, and dietetic monitoring is crucial to ensure a favourable outcomes in MMA. Personalized treatment is necessary according to the individual clinical course. Knowledge about long-term treatment and clinical outcome is important information to influence future MMA clinical guidelines.

scholarly journals Long-term sequelae of Pneumococcal Sepsis in children: a systematic review

2021 ◽  
Author(s):  
Adeteju A Ogunbameru ◽  
Rafael N Miranda ◽  
Joanna Bielecki ◽  
Beate Sander
Keyword(s):  
Systematic Review ◽  
Prognostic Factors ◽  
Pediatric Patients ◽  
Meta Analysis ◽  
Length Of Hospital Stay ◽  
Factors Associated ◽  
Pneumococcal Sepsis ◽  
Increased Risk ◽  
Meta Analyses

Background: Long-term sequelae associated with pneumococcal sepsis (PS) in pediatric patients in existing literature is currently unclear. Aim: To review the evidence on sequelae and prognostic factors associated with PS among pediatric patients. Method: We conducted a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses reporting guidelines. We screened six databases from their inception to January 15, 2021. Study population were neonates, infants, children and adolescents less than 18 years old with suspected or confirmed PS disease. Outcomes included sequelae types, prognostic factors, pooled death estimate and length of hospital stay (LOS) for survivors and deceased patients. Quality of studies was assessed using Joanna Briggs Institute appraisal checklists. Results: We screened 981 abstracts, and 24 full-text articles for final review. Septic shock was the most prevalent physical sequelae reported (13%, n=1492 patients). No functional, cognitive or neurological sequelae were reported in included studies. Meta-analysis of pooled mortality estimate was 14.6% (95%CI: 9.9 -19.4%). Prognostic factors associated with increased risk of PS sequelae and death included pediatric risk of mortality score ≥ 10 and co-infection with meningitis. LOS for survivors and non-survivors ranged between 5-30 days and 1-30 days. Nine included studies met at least 50% of the quality assessment criteria. Conclusion: Physical sequelae and death are the PS sequelae types currently identified in existing literature. Lack of information about other possible sequelae types suggests the long-term consequences of PS disease maybe underreported, especially in resource-limited settings. Future studies should consider exploring reasons for the existing of this knowledge gap.

Sequential Use of Romiplostim after Eltrombopag for Refractory Thrombocytopenia in Hydrocarbon-Induced Myelodysplasia

2021 ◽  
Author(s):  
Luis F. Morales ◽  
Santiago J. Miyara ◽  
Sara Guevara ◽  
Christine N. Metz ◽  
Muhammad Shoaib ◽  
...  
Keyword(s):  
Randomized Clinical Trials ◽  
Clinical Course ◽  
First Line ◽  
Leukemic Transformation ◽  
Double Blind ◽  
Thrombopoietin Receptor ◽  
Increased Risk ◽  
Thrombopoietin Receptor Agonist ◽  
Thrombocytopenic Patient

AbstractWe describe the clinical course of a 65-year-old male patient who suffered from hydrocarbon-induced myelodysplasia and was successfully treated with the thrombopoietin receptor agonist (TPO-RA), romiplostim. Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis, cytopenias, and increased risk of leukemic transformation. Here, we present a clinical vignette of MDS-associated thrombocytopenia refractory to first-line drugs as well as the TPO-RA, eltrombopag. To date, romiplostim is an U.S. Food and Drug Administration (FDA)-approved drug for idiopathic thrombocytopenic purpura and thrombocytopenia secondary to liver disease. Of note, currently the FDA advises against its use in MDS based on previous long-term safety concerns. Since the therapeutic options for thrombocytopenia in MDS patients are sparse, repurposing and reassessing romiplostim in this setting have been the focus of recent studies. At the time of writing, no published double-blind randomized clinical trials have conducted a head-to-head comparison between romiplostim and eltrombopag in thrombocytopenic MDS patients. To the best of our knowledge, for a thrombocytopenic patient in the setting of MDS, this is the first documented report of refractory clinical response after a 2-year use of eltrombopag in which replacement of treatment with romiplostim resulted in sustained physiological counts of thrombocytes within four weeks.

scholarly journals Long-term epilepsy-associated tumors: transcriptional signatures reflect clinical course

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Daniel Delev ◽  
Karam Daka ◽  
Sabrina Heynckes ◽  
Annette Gaebelein ◽  
Pamela Franco ◽  
...  
Keyword(s):  
Signaling Pathways ◽  
Transcriptional Activation ◽  
Clinical Course ◽  
Mapk Pathway ◽  
Neural Function ◽  
Increased Risk ◽  
Drug Resistant Epilepsy ◽  
Transcript Signature ◽  
Associated Tumors

AbstractLong-term epilepsy-associated tumors (LEATs) represent mostly benign brain tumors associated with drug-resistant epilepsy. The aim of the study was to investigate the specific transcriptional signatures of those tumors and characterize their underlying oncogenic drivers. A cluster analysis of 65 transcriptome profiles from three independent datasets resulted in four distinct transcriptional subgroups. The first subgroup revealed transcriptional activation of STAT3 and TGF-signaling pathways and contained predominantly dysembryoplastic neuroepithelial tumors (DNTs). The second subgroup was characterized by alterations in the MAPK-pathway and up-stream cascades including FGFR and EGFR-mediated signaling. This tumor cluster exclusively contained neoplasms with somatic BRAFV600E mutations and abundance of gangliogliomas (GGs) with a significantly higher recurrence rate (42%). This finding was validated by examining recurrent tumors from the local database exhibiting BRAFV600E in 90% of the cases. The third cluster included younger patients with neuropathologically diagnosed GGs and abundance of the NOTCH- and mTOR-signaling pathways. The transcript signature of the fourth cluster (including both DNTs and GGs) was related to impaired neural function. Our analysis suggests distinct oncological pathomechanisms in long-term epilepsy-associated tumors. Transcriptional activation of MAPK-pathway and BRAFV600E mutation are associated with an increased risk for tumor recurrence and malignant progression, therefore the treatment of these tumors should integrate both epileptological and oncological aspects.

Long-Term Unemployment in Poland in 2008-2012 - Tendencies, Structure and Selected Determinants

2013 ◽  
Vol 8 (4) ◽  
pp. 347-359
Author(s):  
Leszek Kucharski
Keyword(s):  
Secondary Education ◽  
Young People ◽  
Level Of Education ◽  
Low Level ◽  
Increased Risk

This study presents the structure and tendencies in long-term unemployment in Poland in the years 2008-2012. This study identifies the groups of people with an increased risk of long-term unemployment. The analyses produced the following conclusions. The groups with the highest risk of long-term unemployment include: singles, people aged of 55 and above and people with a low level of education. Young people with university and general secondary education faced the lowest risk of long-term unemployment. 

scholarly journals Occasional and persistent frequent attenders and sickness absences in occupational health primary care: a longitudinal study in Finland

BMJ Open ◽  
2019 ◽  
Vol 9 (2) ◽  
pp. e024980 ◽  
Author(s):  
Tiia T M Reho ◽  
Salla A Atkins ◽  
Nina Talola ◽  
Markku P T Sumanen ◽  
Mervi Viljamaa ◽  
...  
Keyword(s):  
Primary Care ◽  
Longitudinal Study ◽  
Occupational Health ◽  
Sick Leave ◽  
Diagnostic Codes ◽  
Frequent Attenders ◽  
Frequent Attendance ◽  
Increased Risk ◽  
Working Age

ObjectivesFrequent attenders (FAs) create a substantial portion of primary care workload but little is known about FAs’ sickness absences. The aim of the study is to investigate how occasional and persistent frequent attendance is associated with sickness absences among the working population in occupational health (OH) primary care.Setting and participantsThis is a longitudinal study using medical record data (2014–2016) from an OH care provider in Finland. In total, 59 676 patients were included and categorised into occasional and persistent FAs or non-FAs. Sick-leave episodes and their lengths were collected along with associated diagnostic codes. Logistic regression was used to analyse associations between FA status and sick leaves of different lengths (1–3, 4–14 and ≥15 days).ResultsBoth occasional and persistent FA had more and longer duration of sick leave than non-FA through the study years. Persistent FAs had consistently high absence rates. Occasional FAs had elevated absence rates even 2 years after their frequent attendance period. Persistent FAs (OR=11 95% CI 7.54 to 16.06 in 2016) and occasional FAs (OR=2.95 95% CI 2.50 to 3.49 in 2016) were associated with long (≥15 days) sickness absence when compared with non-FAs. Both groups of FAs had an increased risk of long-term sick leaves indicating a risk of disability pension.ConclusionBoth occasional and persistent FAs should be identified in primary care units caring for working-age patients. As frequent attendance is associated with long sickness absences and possibly disability pensions, rehabilitation should be directed at this group to prevent work disability.

Epidemiological Evidence that Maternal Influenza Contributes to the Aetiology of Schizophrenia

1993 ◽  
Vol 163 (4) ◽  
pp. 522-534 ◽  
Author(s):  
W. Adams ◽  
R. E. Kendell ◽  
E. H. Hare ◽  
P. Munk-Jørgensen
Keyword(s):  
Data Sets ◽  
Time Lags ◽  
Epidemiological Evidence ◽  
Intrauterine Development ◽  
Increased Risk ◽  
Schizophrenic Patients ◽  
The Relationship ◽  
Monthly Incidence ◽  
Maternal Influenza

The epidemiological evidence that the offspring of women exposed to influenza in pregnancy are at increased risk of schizophrenia is conflicting. In an attempt to clarify the issue we explored the relationship between the monthly incidence of influenza (and measles) in the general population and the distribution of birth dates of three large series of schizophrenic patients - 16 960 Scottish patients born in 1932–60; 22 021 English patients born in 1921–60; and 18 723 Danish patients born in 1911–65. Exposure to the 1957 epidemic of A2 influenza in midpregnancy was associated with an increased incidence of schizophrenia, at least in females, in all three data sets. We also confirmed the previous report of a statistically significant long-term relationship between patients' birth dates and outbreaks of influenza in the English series, with time lags of - 2 and - 3 months (the sixth and seventh months of pregnancy). Despite several other negative studies by ourselves and others we conclude that these relationships are probably both genuine and causal; and that maternal influenza during the middle third of intrauterine development, or something closely associated with it, is implicated in the aetiology of some cases of schizophrenia.

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