Publications by authors named "Cecile Acquaviva"

Article Synopsis
  • The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
  • Results showed that patients with mitochondrial disorders had significantly more remodeled and neoformed NMJ endplates, with a trend towards increased Schwann cell extensions, indicating NMJ alterations even without muscle weakness.
  • The findings suggest that mitochondrial disorders may lead to NMJ remodeling as a primary issue, separate from structural muscle damage, though the exact mechanisms and clinical indicators warrant further investigation.
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Article Synopsis
  • - Primary hyperoxalurias (PH) are rare genetic disorders that can lead to significant diagnostic delays, adversely affecting patient health outcomes.
  • - A study of 52 patients revealed that adults experienced much longer diagnostic delays (30 years on average) compared to children (1.2 years), with renal colic being the main symptom for adults.
  • - The findings highlight the need for greater awareness among healthcare professionals about these conditions to improve early detection and management, despite existing support structures for rare diseases.
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Introduction: Patients with short bowel syndrome (SBS) may exhibit enteric hyperoxaluria (EH), and the prevalence of oxalate nephropathy in SBS is likely underestimated. Plasma oxalate (POx) is a surrogate of systemic oxalate deposition and, consequently, may increase the risk of developing chronic kidney disease (CKD). The main objective of this study was to explore the distribution of POx levels in patients with SBS.

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Since the identification of the first disorder of mitochondrial fatty acid oxidation defects (FAOD) in 1973, more than 20 defects have been identified. Although there are some differences, most FAOD have similar clinical signs, which are mainly due to energy depletion and toxicity of accumulated metabolites. However, some of them have an unusual clinical phenotype or specific clinical signs.

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Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic disease. Diagnosis of PH is often delayed or missed owing to its rarity, variable clinical expression and other diagnostic challenges. Management of patients with PH and kidney failure is also extremely challenging.

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Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion.

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Objectives: To present the very long-term follow up of patients with cobalamin A (cblA) deficiency.

Methods: A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency.

Results: We included 23 patients (mean age: 27 ± 7.

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3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic intoxication with a presentation including severe hypoglycemia without ketosis, metabolic acidosis, hyper-ammoniemia, hepatomegaly and a coma.

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  • The paper investigates how CTNS mutations and cysteamine therapy affect human osteoclasts, focusing on bone complications in cystinosis patients.
  • It involved 17 mainly pediatric patients, examining their blood cells to see how well they differentiate into osteoclasts when treated with various cysteamine doses.
  • Findings reveal that patients with different CTNS mutations show distinct osteoclast differentiation patterns, and high doses of cysteamine negatively influence this process across all mutation types.
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Brown-Vialetto-Van Laere syndrome is a rare, autosomal, recessive neurological condition caused by variants in the riboflavin transporter genes SLC52A2 and SLC52A3. Here, we report on three cases. Case 1 was a 35-year-old woman from a consanguineous family who presented with progressive deafness, subacute multiple cranial nerve impairments (III, VII, IX, XII), and MRI abnormalities (including as hypersignal from the cranial nerves).

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  • - The study aimed to improve the diagnosis of inherited ataxia and related disorders through molecular sequencing, given the complexity and variety of symptoms associated with these diseases.
  • - Researchers analyzed 366 patients with undiagnosed ataxia using clinical exome-capture sequencing and established a molecular diagnosis in 46% of cases, uncovering previously unrecognized variants.
  • - They highlighted that many patients presented with milder symptoms due to unique genetic variations like hypomorphic variants and specific mechanisms such as C-terminal truncations, identifying PEX10 and FASTKD2 as genes involved in these mild disease presentations.
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Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To investigate this, we retrospectively analyzed the largest PH3 cohort reported so far. Of 95 patients, 74 were followed over a median of six years.

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Background: Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and deterioration of the central nervous system.

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Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD.

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Background: Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be 9/1,000,000 and the prevalence at birth approximately 1/200,000. The clinical features of this disease are divided into three groups of symptoms linked to a defect in electron transfer flavoprotein (ETF) metabolism.

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Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), partly overlaps with making double mutations possible, yet extremely rarely reported principally in patients with cardiomyopathy. Here, we report a novel m.

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We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the gene. Genetic explorations found a deletion of and a missense variant on the other allele detected respectively by array comparative genomic hybridization (CGH) and Sanger sequencing. Amino acid analysis provided a biochemical confirmation.

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Background/objectives: The increased prevalence of obesity has prompted great strides in our understanding of specific adipose depots and their involvement in cardio-metabolic health. However, the impact of obesity on dermal white adipose tissue (dWAT) and dermal microvascular functionality remains unclear. This study aimed to investigate the temporal changes that occur in dWAT and dermal microvascular functionality during the development of diet-induced obesity and type 2 diabetes in mice.

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Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when blood acylcarnitine profile is abnormal. However, a lack of abnormalities or specificity in this profile is not exclusive of CPT2 deficiency.

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The original supplementary information included with this article contained several minor errors. Corrected Supplementary Information accompanies this corrigendum.

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