Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series.

Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and sodium voltage-gated channel alpha subunit 1 (SCN1A) genes have a well-established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline-rich transmembrane protein 2 (PRRT2).

The clinical effectiveness of an integrated multidisciplinary evidence-based program to prevent intraoperative pressure injuries in high-risk children undergoing long-duration surgical procedures: A quality improvement study.

The prevention of hospital-acquired pressure injuries (HAPIs) in children undergoing long-duration surgical procedures is of critical importance due to the potential for catastrophic sequelae of these generally preventable injuries for the child and their family. Long-duration surgical procedures in children have the potential to result in high rates of HAPI due to physiological factors and the difficulty or impossibility of repositioning these patients intraoperatively. We developed and implemented a multi-modal, multi-disciplinary translational HAPI prevention quality improvement program at a large European Paediatric University Teaching Hospital.

Mother and Daughter Carrying of the Same Pathogenic Variant in with Discordant Phenotype.

Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three independent cases of FXS co-segregation with three different genetic conditions, consisting of Duchenne muscular dystrophy (DMD), --related neurodevelopmental disorder, and 2p25.

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.

The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of Next Generation Sequencing (NGS) technologies is increasing the diagnostic rate, which can be influenced by patients' selection. To assess if a clinical diagnosis of CA/HSP received in a third-level reference center might impact the molecular diagnostic yield, we retrospectively evaluated the molecular diagnostic rate reached in our center on 192 unrelated families (90 HSP and 102 CA) (i) before NGS and (ii) with the use of NGS gene panels.

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.

Friedreich's ataxia (FRDA) is usually due to a homozygous GAA expansion in intron 1 of the frataxin (FXN) gene. Rarely, uncommon molecular rearrangements at the FXN locus can cause pitfalls in the molecular diagnosis of FRDA. Here we describe a family whose proband was affected by late-onset Friedreich's ataxia (LOFA); long-range PCR (LR-PCR) documented two small expanded GAA alleles both in the proband and in her unaffected younger sister, who therefore received a diagnosis of pre-symptomatic LOFA.

Reversion to Normal of Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Fragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5' UTR of the gene. Full mutation alleles (FM) have more than 200 repeats and result in gene silencing and FXS. FMs arise from maternal premutations (PM) that have 56-200 CGGs; contractions of a maternal PM or FM are rare.

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.

Fragile X syndrome (FXS) is a very frequent cause of inherited intellectual disability (ID) and autism. Most FXS patients have an expansion over 200 repeats of (CGG) sequence ("full mutation" (FM)) located in the 5'UTR of the FMR1 gene, resulting in local DNA methylation (methylated "full mutation" (MFM)) and epigenetic silencing. The absence of the FMRP protein is responsible for the clinical phenotype of FXS.

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Muir-Torre syndrome (MTS) is clinically characterized by the occurrence of skin, usually sebaceous, and visceral tumors in the same individual. The most common underlying mechanism is a constitutional defect of the mismatch repair (MMR) genes that cause Lynch syndrome (LS). Herewithin we report on a 76 years-old male patient heterozygous for a pathogenic MSH2 missense substitution who presented with a striking cutaneous phenotype in the absence of typical LS visceral tumors.

Correction to: Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.

The authors regret that the original version of this article, unfortunately, contained an error. The values "1/3 (33%)" reported in the second to last sentence of the Discussion are wrong; the correct values are "2/2 (100%)". These are presented correctly in this article.

Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.

Gastrointestinal "juvenile-like (inflammatory/hyperplastic) mucosal polyps" (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposis syndrome (JPS) has also been reported in a NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps.

Practices and Perceptions of Family Centered Care among Healthcare Providers: A Cross-sectional Study in a Pediatric Hospital.

Purpose: This study aimed to: (1) investigate the extent to which Family Centered Care (FCC) principles are currently applied in clinical practice by healthcare providers working in inpatient units; (2) evaluate the extent to which FCC principles are perceived as necessary; and (3) examine the associations between FCC principles and socio-demographic and job characteristics of participants. Design and Methods A cross-sectional study was conducted at a large pediatric hospital using the Italian version of the FCC Questionnaire Revised (FCCQ-R). Univariate and multivariate analyses were performed.

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.

Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported.

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

Objective: To investigate whether miscarried embryo/fetal crown rump length (CRL) measurement may yield a practical application for predicting a conclusive result at the cytogenetic analysis of miscarriage tissue. Our study might help in improving the cytogenetic method, the results of which may be affected by maternal cell contamination (MCC). In particular, we aimed at establishing whether the miscarried embryo/fetal CRL measurement shows accuracy in predicting the possibility of MCC and the scan cut-off value useful to this purpose and, as a result, suggest a multi-step procedure for the genetic ascertainment.

Effectiveness of an improvement programme to prevent interruptions during medication administration in a paediatric hospital: a preintervention-postintervention study.

Objective: To assess the effectiveness of an improvement programme to reduce the number of interruptions during the medication administration process in a paediatric hospital.

Design And Methods: A prestudy-post study design was used to monitor nursing interruptions during medication cycles in a paediatric hospital. Interruptions were reported on an observation sheet (MADOS-P) adapted to the paediatric context.

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is little information regarding affected females, with very few reported cases, and a clinical definition of this phenotype is still lacking. In the present report we describe an additional case, the first to receive a primary molecular diagnosis based on strong clinical suspicion.

Patient's Loss of Empathy Is Associated With Caregiver Burden.

Patients benefit from the presence of empathic caregivers (CGs). In this regard, empathy toward the patient is one of the clinical targets for improving patient outcomes. However, relatively little is known about the impact of patients' empathic responses on the CGs' burden.

Rehabilitation of hypomimia in Parkinson's disease: a feasibility study of two different approaches.

Parkinson's disease (PD) patients frequently have an impairment of facial expression both in voluntary and spontaneous emotional expression. Aim of this study was to evaluate the feasibility of a rehabilitation program for hypomimia in patients with PD, comparing two different approaches. Thirty-six patients with PD were included: 20 patients received a rehabilitative intervention for hypomimia either with a DVD showing exercises focused on facial muscles (PD-group-A) or with a therapist-guided facial rehabilitation with a proprioceptive/recognition approach (PD-group-B).

Reduced facial expressiveness in Parkinson's disease: A pure motor disorder?

Background And Aims: Impaired emotional facial expressiveness is an important feature in Parkinson's disease (PD). Although there is evidence of a possible relationship between reduced facial expressiveness and altered emotion recognition or imagery in PD, it is unknown whether other aspects of the emotional processing, such as subjective emotional experience (alexithymia), might influence hypomimia in this condition. In this study wee aimed to investigate possible relationship between reduced facial expressiveness and altered emotion processing (including facial recognition and alexithymia) in patients with PD.

Emotional Awareness, Relationship Quality, and Satisfaction in Patients With Parkinson's Disease and Their Spousal Caregivers.

This study aimed to evaluate the relationship quality and satisfaction in couples, in which one partner had PD, obtaining the perspective of both patients and partner and to examine the impact of alexithymia, empathy, depression, and anxiety on ratings of relationship quality and satisfaction. Fifteen PD patients and partners completed the following scales: the Dyadic Adjustment Scale; Couple Satisfaction Index (CSI); the 20-item Toronto Alexithymia Scale; the Empathy Quotient; the Hamilton Depression and the Hamilton Anxiety Rating Scale (HAM-A). We evaluated patients' motor functions by means of Unified Parkinson's Disease Rating Scale and patients' quality of life by means of the PD Questionnaire.

A systematic review of hospital foodservice patient satisfaction studies.

The quality of hospital foodservice is one of the most relevant items of health care quality perceived by patients and by their families. Patient satisfaction is considered a way of measuring the quality of services provided. The purpose of this study was to retrieve and review the literature describing patient satisfaction with hospital foodservices.