Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle.

A 62-year-old recreational cyclist presented with transient loss of consciousness and common electrocardiographic findings. Despite absence of left ventricular hypertrophy, multidisciplinary evaluation and a positive family history led to the diagnosis of non-classical Fabry disease. This case emphasizes the added value of multidisciplinary analysis of nonspecific findings to diagnose a rare disease.

Local adaptation to climate facilitates a global invasion.

Local adaptation may facilitate range expansion during invasions, but the mechanisms promoting destructive invasions remain unclear. Cheatgrass (), native to Eurasia and Africa, has invaded globally, with particularly severe impacts in western North America. We sequenced 307 genotypes and conducted controlled experiments.

Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.

Patients with inherited disorders of the long-chain fatty acid oxidation (lcFAO) machinery present with a heterogeneous profile of disease manifestations and aggravation of symptoms is often triggered by inflammatory activation. Monocytes and macrophages are innate immune cells that play a major role in the onset and resolution of inflammation. These cells undergo metabolic rewiring upon activation including the regulation of the FAO rate.

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life, symptoms usually develop more gradually. We report three previously healthy young adults, who developed rapidly progressive neurological symptoms after decreasing dietary intake of meat and dairy.

Neuropathic pain after major limb amputation: a cross-sectional study.

Background Objective: Residual limb pain (RLP) and phantom pain can arise following amputation and may require additional treatment or surgery. This study aimed to determine the prevalence of neuropathic RLP following limb amputation and identify prognostic factors for the development of neuropathic RLP.

Methods: A cross-sectional study was performed of patients who underwent upper or lower extremity amputation between 1990 and 2021 with a minimum of twelve months follow-up.

Surgical Treatment of Neuropathic Chronic Postherniorrhaphy Inguinal Pain: A Systematic Review and Meta-Analysis.

: Neuropathic chronic postherniorrhaphy inguinal pain (CPIP) is a serious adverse outcome following inguinal hernia repair surgery. The optimal surgical treatment for neuropathic CPIP remains controversial in the current literature. This systematic review aims to evaluate the effectiveness of various surgical techniques utilized to manage neuropathic CPIP.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Introduction: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

An increasing number of women with urea cycle disorders (UCDs) are reaching child-bearing age and becoming pregnant. Improved diagnostics and increased awareness of inherited metabolic diseases has also led to more previously undetected women being diagnosed with a UCD during or shortly after pregnancy. Pregnancy increases the risk of acute metabolic decompensation with hyperammonemia-which can occur in any trimester, and/or the postpartum period, and may lead to encephalopathy, psychosis, coma, and even death, if not diagnosed promptly and treated appropriately.

[Dental rehabilitation in a young patient with glycogen storage disease type 1B].

A young woman, known to have glycogen storage disease type 1B (GSD1B) presents with severe periodontitis. GDS1B causes decreased hepatic and renal glucose production and in many cases neutropenia and neutrophil dysfunction leading to recurrent infections. It was decided to treat the patient by extraction of the most affected teeth and retention of the remaining teeth through periodontal treatment, both with antibiotic prophylaxis.

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism.

Dietary or nutritional management strategies are the cornerstone of treatment for many inborn errors of metabolism (IEMs). Though a vital part of standard of care, the products prescribed for this are often not formally registered as medication. Instead, they are regulated as food or as food supplements, impacting the level of oversight as well as reimbursed policies.

Phantom Limb Pain and Painful Neuroma After Dysvascular Lower-Extremity Amputation: A Systematic Review and Meta-Analysis.

Background: Phantom limb pain (PLP) and symptomatic neuroma can be debilitating and significantly impact the quality of life of amputees. However, the prevalence of PLP and symptomatic neuromas in patients following dysvascular lower limb amputation (LLA) has not been reliably established. This systematic review and meta-analysis evaluates the prevalence and incidence of phantom limb pain and symptomatic neuroma after dysvascular LLA.

Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).

Background/objectives: The timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are different from those in children and influenced by symptoms from acquired conditions. This systematic literature review aims to answer the following questions: (1) What is the diagnostic yield of exome/genome sequencing (ES/GS) for IMD in adults with unsolved phenotypes? (2) What characteristics do adult patients diagnosed with IMD through ES/GS have?

Methods: A systematic search was conducted using the following search terms (simplified): "Whole exome sequencing (WES)," "Whole genome sequencing (WGS)," "IMD," "diagnostics" and the 1,450 known metabolic genes derived from ICIMD.

Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels.

Background: Fabry disease is a very heterogeneous X-linked lysosomal storage disease. Disease manifestations in the kidneys, heart, and brain vary greatly, even between patients of the same sex and with the same disease classification (classical or nonclassical). A biomarker with a strong association with the development of disease manifestations is needed to determine the need for Fabry-specific treatment and appropriate frequency of follow-up because clinical manifestations of the disorder may take decennia to develop.

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Background: Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all. This study aims to answer this question for primary carnitine deficiency (PCD) taking into account that NBS for PCD identifies newborns with PCD and also until then undiagnosed mothers.

Methods: We investigated clinical, genetic (variants in gene) and functional (carnitine transport activity in fibroblasts) characteristics of all referred individuals through NBS (newborns and mothers) and clinically diagnosed patients with PCD (not through NBS).

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.

Background: Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, NBS can also identify, mostly asymptomatic, mothers with primary carnitine deficiency.

Anatomy of the Superficial Radial Nerve and Its Target Nerves for Targeted Muscle Reinnervation: An Anatomical Cadaver Study.

Background: Targeted muscle reinnervation (TMR) is a surgical procedure for treating symptomatic neuroma, in which the neuroma is removed and the proximal nerve stump is coapted to a donor motor branch innervating a nearby muscle. This study aimed to identify optimal motor targets for TMR of the superficial radial nerve (SRN).

Methods: Seven cadaveric upper limbs were dissected to describe the course of the SRN in the forearm and motor nerve supply-number, length, diameter, and entry points in muscle of motor branches-for potential recipient muscles.

[The surgical treatment of peripheral neuromas].

Peripheral neuromas are a prevalent problem following nerve injury or certain surgical interventions like limb amputation. It is important to consider a peripheral neuroma when a patient experiences pain in the innervation area of a peripheral sensory or mixed nerve (branch), especially following trauma or amputation. Adequate recognition of a painful neuroma is crucial to treat patients satisfactorily for their invalidating and chronic symptoms.