Angela Michelucci
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View article: Massive Facial Involvement in Crusted (Norwegian) Scabies
Massive Facial Involvement in Crusted (Norwegian) Scabies Open
View article: Efficacy and safety of once-weekly semaglutide monotherapy in a young subject with Prader-Willi syndrome, obesity, and type 2 diabetes: a case report
Efficacy and safety of once-weekly semaglutide monotherapy in a young subject with Prader-Willi syndrome, obesity, and type 2 diabetes: a case report Open
Background The treatment of obesity and type 2 diabetes (T2D) in Prader-Willi syndrome (PWS) is still a challenge. Glucagon-like peptide 1 receptor agonists (GLP-1 RA) are attractive options, since they effectively reduce weight and improv…
View article: The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report
The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report Open
Background Brown tumors are rare bone manifestations of primary hyperparathyroidism (PHPT) that may occur at different sites either as single or multiple lesions and they can easily be mistaken for malignant lesions. Neither bone site nor …
View article: Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets
Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets Open
Objective FGF23 measurement may have a diagnostic role to investigate patients with phosphate disorders. However, normal values for infants, children, and adolescents have not been defined. Methods In a total of 282 (males 145, females 137…
View article: Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome
Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome Open
Background Multiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of MEN1 gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to …
View article: Calcification of Joints and Arteries (CALJA) Is a Rare Cause of Arthritis and Lower Limb Ischemia: Case Report and Literature Review
Calcification of Joints and Arteries (CALJA) Is a Rare Cause of Arthritis and Lower Limb Ischemia: Case Report and Literature Review Open
Calcification of Joints and Arteries (CALJA) is a rare disease that leads to chronic arthritis and lower limb claudication due to hydroxyapatite crystal deposition. The disease is caused by mutations in the 5-nucleotidase ( NT5E ) gene, wh…
View article: Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene Open
The WNT1 gene is crucial for bone development and homeostasis. Homozygous mutations in WNT1 cause severe bone fragility known as osteogenesis imperfecta type XV. Moreover, heterozygous WNT1 mutations have been found in adults with early-on…
View article: A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report Open
View article: Fenotipo misto MEN2A/MEN2B da nuova mutazione germinale di RET: prima descrizione clinico-genetica e iconografia
Fenotipo misto MEN2A/MEN2B da nuova mutazione germinale di RET: prima descrizione clinico-genetica e iconografia Open
Questo è il caso di una bambina che alla nascita presentava ittero neonatale, vomito biliare e mancata espulsione del meconio.La biopsia rettale e il test del sudore escludevano una qualsiasi disganglionosi intestinale e la fibrosi cistica…
View article: A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New <i>RET</i> Germline Deletion
A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New <i>RET</i> Germline Deletion Open
Background . Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto‐oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost al…
View article: Understanding the Mechanisms of Resistance in EGFR-Positive NSCLC: From Tissue to Liquid Biopsy to Guide Treatment Strategy
Understanding the Mechanisms of Resistance in EGFR-Positive NSCLC: From Tissue to Liquid Biopsy to Guide Treatment Strategy Open
Liquid biopsy has emerged as an alternative source of nucleic acids for the management of Epidermal Growth Factor Receptor (EGFR)-mutant non-Small Cell Lung Cancer (NSCLC). The use of circulating cell-free DNA (cfDNA) has been recently int…
View article: Alagille Syndrome: A Novel Mutation in JAG1 Gene
Alagille Syndrome: A Novel Mutation in JAG1 Gene Open
Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this pape…
View article: DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients
DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients Open
View article: ExtraUterine Growth Restriction (EUGR) in Preterm Infants: Growth Patterns, Nutrition, and Epigenetic Markers. A Pilot Study
ExtraUterine Growth Restriction (EUGR) in Preterm Infants: Growth Patterns, Nutrition, and Epigenetic Markers. A Pilot Study Open
Background/Aims: IntraUterine (IUGR) and ExtraUterine Growth Restriction (EUGR) may induce reprogramming mechanisms, finalized to survive before and after birth. Nutritional factors and other environmental signals could regulate gen…
View article: Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children
Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children Open
Cilia have multiple functions including olfaction. We hypothesised that olfactory function could be impaired in primary ciliary dyskinesia (PCD). Olfaction, nasal nitric oxide (nNO) and sinus CT were assessed in patients with PCD and non-P…
View article: A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome Open
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 week…
View article: Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation Open
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in cli…
View article: Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature
Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature Open
Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases …
View article: Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients
Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients Open