Publications by authors named "Sam Mehr"

Article Synopsis
  • Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a rare genetic disorder linked to severe health issues like nephrotic syndrome, adrenal insufficiency, and various systemic symptoms, primarily caused by mutations in the SGPL1 gene.
  • A study of 76 SPLIS patients found that overall survival is around 50%, with survival influenced by factors such as age at diagnosis, organ involvement, whether the patient received a kidney transplant, and specific SGPL1 genotypes.
  • Children diagnosed with SPLIS nephropathy before age one have a significantly worse survival rate compared to those diagnosed after one year, highlighting the importance of early diagnosis and potential interventions.
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Background: Major fish allergens, including parvalbumin (PV), are heat stable and can withstand extensive cooking processes. Thus, the management of fish allergy generally relies on complete avoidance. Fish-allergic patients may be advised to consume canned fish, as some fish-allergic individuals have reported tolerance to canned fish.

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Mevalonate kinase deficiency (MKD) is characterized by recurrent fevers and flares of systemic inflammation, caused by biallelic loss-of-function mutations in MVK. The underlying disease mechanisms and triggers of inflammatory flares are poorly understood because of the lack of in vivo models. We describe genetically modified mice bearing the hypomorphic mutation p.

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Article Synopsis
  • The study reveals that fish-allergic patients may react to crocodile meat due to the presence of parvalbumin (PV), a common fish allergen.
  • Eight out of twelve fish-allergic patients tested showed positive skin reactions to heated crocodile preparation, indicating significant IgE binding.
  • Crocodile parvalbumin isoforms have been registered as the first reptile allergens, suggesting that individuals with fish allergies should consult specialists before eating crocodile.
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The response surface methodology (RSM) and central composite design (CCD) technique were used to optimize the three key process parameters (i.e., pressure, temperature and holding time) of the high-hydrostatic-pressure (HHP) processing either standalone or combined with moderate thermal processing to modulate molecular structures of β-lactoglobulin (β-Lg) and α-lactalbumin (α-La) with reduced human IgE-reactivity.

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Background: Pediatric airway foreign bodies (FBs) are a surgical emergency, and peanuts and tree nuts (PN/TNs) can pose a significant aspiration risk in young children. In 2015, the Learning Early About Peanut allergy (LEAP) trial established that early introduction of peanuts in high-risk infants reduced the risk of developing a peanut allergy. Infant feeding guidelines were subsequently modified to actively encourage the introduction of allergenic foods for all infants.

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Background: Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated food allergic disorder with a well-characterized phenotype, but limited understanding of factors associated with food cross-reactivity, severity and tolerance.

Methods: A retrospective cohort study spanning 20 years on children with acute FPIES from a single paediatric tertiary centre in New South Wales, Australia, focusing on identifying food trigger co-associations and factors associated with reaction severity, multiple trigger FPIES and/or tolerance was performed.

Results: A total of 168 individuals with 329 recorded FPIES episodes between 1997 and 2017 were included.

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Background: Peanut components are widely used in clinical practice; however, their utility to predict challenge outcome in the Australian children, outside of infants, is not well studied.

Objective: Can peanut component testing predict outcome of challenge in peanut-allergic children.

Methods: All children attending peanut challenges, regardless of previous allergic reactions to peanut or sensitization (skin prick test or peanut IgE) alone, were recruited.

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Background: Diagnostic tests for fish allergy are hampered by the large number of under-investigated fish species. Four salmon allergens are well-characterized and registered with the WHO/IUIS while no catfish allergens have been described so far. In 2008, freshwater-cultured catfish production surpassed that of salmon, the globally most-cultured marine species.

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Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated food allergy that manifests with projectile, repetitive emesis that can be followed by diarrhea and may be accompanied by lethargy, hypotonia, hypothermia, hypotension, and metabolic derangements. FPIES usually starts in infancy although onset at older ages is being increasingly recognized. FPIES is not rare, with the cumulative incidence of FPIES in infants estimated to be 0.

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The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the gene encoding mevalonate kinase. Deficiency of this enzyme decreases the synthesis of isoprenoid lipids and thus prevents the normal post-translational prenylation of small GTPase proteins, which then accumulate in their unprenylated form. We recently optimized a sensitive assay capable of detecting unprenylated Rab GTPase proteins in peripheral blood mononuclear cells (PBMCs) and showed that this assay distinguished MKD from other autoinflammatory diseases.

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Article Synopsis
  • The study highlights that commercial fish allergen extracts lack regulatory standardization, which may affect the accuracy of skin prick testing (SPT) for diagnosing fish allergies.
  • Researchers analyzed 26 different fish extracts and found significant variability in protein content and IgE reactivity, with some major allergens, like parvalbumin, missing from several extracts.
  • The findings indicate an urgent need for standardized allergen extracts to enhance the reliability of fish allergy diagnostics and support better patient management.
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Background: Food protein-induced enterocolitis syndrome (FPIES) is frequently misdiagnosed and subject to diagnostic delay. Profuse vomiting, the cardinal feature of acute FPIES, may occur in more common pediatric disorders such as gastroenteritis and sepsis.

Objectives: We sought to determine differentiating features at acute presentation between FPIES, gastroenteritis, and sepsis in young children presenting to an emergency department (ED) with profuse vomiting.

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Food protein-induced enterocolitis syndrome (FPIES) is a poorly understood non-IgE gastrointestinal-mediated food allergy that predominantly affects infants and young children. Cells of the innate immune system appear to be activated during an FPIES reaction. Acute FPIES typically presents between one and 4 hours after ingestion of the trigger food, with the principal symptom being profuse vomiting, and is often accompanied by pallor and lethargy.

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Immunodeficiency in CHARGE syndrome.

Am J Med Genet C Semin Med Genet

December 2017

Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11.

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Background: Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal allergic disorder. Large population-based FPIES studies are lacking.

Objective: We sought to determine the incidence and clinical characteristics of FPIES in Australian infants.

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