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Article ; Online: Hajdu-Cheney Syndrome

Jonathan Cortés-Martín / Lourdes Díaz-Rodríguez / Beatriz Piqueras-Sola / Juan Carlos Sánchez-García / Antonio Liñán González / Raquel Rodríguez-Blanque

Journal of Clinical Medicine, Vol 11, Iss 5205, p

A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

2022 Volume 5205

Abstract: A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal ... ...

Abstract	A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study.
Keywords	Hajdu-Cheney syndrome ; rare diseases ; acroosteolysis ; osteoporosis ; bone resorption ; NOTCH2 ; Medicine ; R
Subject code	610
Language	English
Publishing date	2022-09-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Ehlers–Danlos Syndrome Type Arthrochalasia

Marta Martín-Martín / Jonathan Cortés-Martín / Maria Isabel Tovar-Gálvez / Juan Carlos Sánchez-García / Lourdes Díaz-Rodríguez / Raquel Rodríguez-Blanque

International Journal of Environmental Research and Public Health, Vol 19, Iss 1870, p

A Systematic Review

2022 Volume 1870

Abstract: Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an ... ...

Abstract	Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers–Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.
Keywords	Ehlers–Danlos syndrome (EDS) ; EDS arthrochalasia ; rare disease ; connective tissue ; congenital anomaly ; hypermobility ; Medicine ; R
Subject code	610
Language	English
Publishing date	2022-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Nursing Care Plan for Patients with Hajdu–Cheney Syndrome

Jonathan Cortés-Martín / Lourdes Díaz-Rodríguez / Beatriz Piqueras-Sola / Juan Carlos Sánchez-García / María José Menor-Rodríguez / Raquel Rodríguez-Blanque

International Journal of Environmental Research and Public Health, Vol 19, Iss 7489, p

2022 Volume 7489

Abstract: Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling ... ...

Abstract	Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling potential. Currently, there is no effective curative treatment, so nursing care is essential to ensure the maintenance of the quality of life of these patients. The main objective of this study was to establish a specific standardized nursing care plan using the NANDA–NIC–NOC taxonomy. The application of a care plan as such would improve the quality of life of patients affected by this rare disease, will contribute to increasing healthcare professionals’ knowledge on this matter and will support future studies on this disease.
Keywords	rare disease ; Hajdu–Cheney syndrome ; nursing care plan ; acroosteolysis ; NOTCH2 ; clinical practice ; Medicine ; R
Language	English
Publishing date	2022-06-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Hajdu-Cheney Syndrome

Jonathan Cortés-Martín / Juan Carlos Sánchez-García / Beatriz Piqueras-Sola / Raquel Rodríguez-Blanque / María Isabel Tovar-Gálvez / Lourdes Díaz-Rodríguez

Diagnostics, Vol 12, Iss 566, p

Report of a Case in Spain

2022 Volume 566

Abstract: This paper describes the case of a 54-year-old woman diagnosed with Hajdu–Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, ... ...

Abstract	This paper describes the case of a 54-year-old woman diagnosed with Hajdu–Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an intermittent mild neutropenia. The patient received treatment with bisphosphonates and was awaiting evaluation for surgical arthroplasty of both hips when she suffered a motor vehicle accident, which led to a rapid progression in her disease by increasing her degree of dependence for most activities of daily living. The clinical presentation and radiologic findings seen in this case confirm the three main features of the syndrome: phenotypic variability, an age-dependent progression and the presence of generalized osteoporosis and acroosteolysis of distal phalanges. The main objective of the manuscript is to describe a new case of a patient diagnosed with Hajdu–Cheney syndrome. Due to the low prevalence of the syndrome and the small number of cases reported in the scientific literature, obtaining a complete description and a global perspective of the disease is complex.
Keywords	Hajdu-Cheney syndrome ; rare diseases ; acroosteolysis ; osteoporosis ; bone re-sorption ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2022-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Depression and Anxiety in Patients with Rare Diseases during the COVID-19 Pandemic

Juan Carlos Sánchez-García / Jonathan Cortés-Martín / Raquel Rodríguez-Blanque / Ana Eugenia Marín-Jiménez / Maria Montiel-Troya / Lourdes Díaz-Rodríguez

International Journal of Environmental Research and Public Health, Vol 18, Iss 3234, p

2021 Volume 3234

Abstract: Scientific knowledge on depression and anxiety in patients with rare diseases during the COVID-19 pandemic is scarce; however, it is essential to perform comprehensive management of these patients. The aim of this study was to research how the situation ... ...

Abstract	Scientific knowledge on depression and anxiety in patients with rare diseases during the COVID-19 pandemic is scarce; however, it is essential to perform comprehensive management of these patients. The aim of this study was to research how the situation caused by the SARS-CoV-2 pandemic has influenced the lives of patients with rare diseases regarding depression and anxiety. This Spanish study considered a heterogeneous population sample of 86 patients with confirmed diagnosis of different rare diseases. Participants took part in a cross-sectional online study by completing specific questionnaires on the study topic. Depression was measured using the Patient Health Questionnaire (PHQ-9), and the General Anxiety Disorder Scale (GAD-7) was used for evaluating anxiety. Data collection through an online questionnaire allowed for a greater population scope and therefore the inclusion patients of other nationalities in the study sample. Finally, as a general result, this study found that, in the face of the pandemic, anxiety and depression remained at a higher level in this group than in the general population, making these patients a vulnerable population group.
Keywords	rare disease ; depression ; anxiety ; COVID-19 ; SARS CoV-2 ; pandemic ; Medicine ; R
Subject code	610
Language	English
Publishing date	2021-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Effect of a 16-Session Qigong Program in Non-Hodgkin Lymphoma Survivors

Keyla Vargas-Román / Emilia I. De la Fuente-Solana / Jonathan Cortés-Martín / Juan Carlos Sánchez-García / Christian J. González-Vargas / Lourdes Díaz-Rodríguez

Journal of Clinical Medicine, Vol 11, Iss 3421, p

A Randomized Clinical Trial

2022 Volume 3421

Abstract: Background: The treatment associated with non-Hodgkin lymphoma patients may cause adverse effects on their physical and psychological condition. The aim of this study is to detect the response to an eight-week, 16-session, 60-min presential Qigong ... ...

Abstract	Background: The treatment associated with non-Hodgkin lymphoma patients may cause adverse effects on their physical and psychological condition. The aim of this study is to detect the response to an eight-week, 16-session, 60-min presential Qigong program in anxiety, depression and vagal nerve activity alongside a control group. Methods: A randomized controlled clinical trial was managed. Randomization was carried out by generating a numerical sequence of three cycles through the software EPIDAT 4.1. Numbers were placed in sealed opaque envelopes for assignment to the different groups. Results: Anxiety levels were substantially decreased in the experimental group, with a large effect size (F = 30.38, p < 0.00). Depression levels had an improvement in the experimental group in contrast to the control group, reaching statistical significance (F = 19.19, p < 0.00). Heart Rate Variability unveiled significant results in terms of between-group differences, with a large effect size in the HRV Index (F = 15.80, p < 0.00), SDNN (F = 8.82, p < 0.00), and RMSSD (F = 6.72, p < 0.01) in the time domain, and a medium effect size in the HF (F = 9.78, p < 0.003), LF (F = 9.78, p < 0.00), and LF/HF Ratio (F = 18.44, p < 0.00) in the frequency domain, which were all bettered in the experimental group, after the Qigong program. Conclusions: Qigong therapy can be an effective therapeutic activity in consonance with traditional medicine to improve psychological health and autonomic nervous system balance in non-Hodgkin lymphoma survivors.
Keywords	lymphoma cancer ; HRV ; autonomic nervous system ; non-Hodgkin lymphoma ; anxiety ; depression ; Medicine ; R
Subject code	796
Language	English
Publishing date	2022-06-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Using “Diraya” System as a Complementary Tool in Nursing Process Education

Lourdes Díaz-Rodríguez / Keyla Vargas-Román / María del Mar Díaz-Rodríguez / Juan Carlos Sánchez-García / Antonio Liñán-González / Raquel Rodríguez-Blanque

Journal of Clinical Medicine, Vol 11, Iss 2771, p

A Controlled Clinical Study

2022 Volume 2771

Abstract: Background: Healthcare has been revolutionized by the application of information and communication technologies. The implementation of electronic health record systems improves the quality and safety of patient healthcare. Nursing students who start ... ...

Abstract	Background: Healthcare has been revolutionized by the application of information and communication technologies. The implementation of electronic health record systems improves the quality and safety of patient healthcare. Nursing students who start learning the nursing process without contact with real patients experience difficulties in its correct application. Purpose: To compare the acquisition of skills and competencies in the nursing process by undergraduate nursing students between conventional learning with books and learning with an academic electronic health record system (Diraya). Methods: A controlled experimental study was conducted and included 379 students with a mean age of 20.54 ± 5.09 years, enrolled in the “Nursing Process and Basic Care” degree course at the School of Health Sciences in Granada. All participants gave their informed consent and were allocated by convenience sampling to a control group ( n = 187; 21.20 ± 5.77 years) or an experimental group ( n = 192, 19.91 ± 4.24 years). Findings: The experimental and control groups did not differ in sex distribution ( p = 0.20), mean age ( p = 0.01), or previous knowledge of the nursing process ( p = 0.96). The groups did not significantly differ in multi-choice test results on the acquisition of theoretical knowledge ( p = 0.13). However, the experimental group scored higher on clinical case planning (9.47 ± 0.80 vs. 8.95 ± 1.17; p < 0.001), took less time to complete it (46.9 ± 8.76 min vs. 82.66 ± 13.14 min; p < 0.001), and needed fewer autonomous learning hours to prepare for the final examination (2.26 ± 2.41 vs. 9.58 ± 3.83; p < 0.001). Satisfaction with the program and the rating of its quality were generally higher in the experimental group, while greater difficulty with most phases of the nursing process was reported by the control group. Conclusions: The academic electronic health record system “Diraya” is a useful tool to improve the learning and implementation of the nursing process by undergraduate nursing students.
Keywords	academic health record system ; case-based learning ; competencies ; Diraya ; nursing process ; Medicine ; R
Subject code	370
Language	English
Publishing date	2022-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Hajdu–Cheney Syndrome

Jonathan Cortés-Martín / Lourdes Díaz-Rodríguez / Beatriz Piqueras-Sola / Raquel Rodríguez-Blanque / Antonio Bermejo-Fernández / Juan Carlos Sánchez-García

International Journal of Environmental Research and Public Health, Vol 17, Iss 6174, p

A Systematic Review of the Literature

2020 Volume 6174

Abstract: Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant ...

Abstract	Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2 . The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no curative treatment, have been reported to date. The main objective of this systematic review was to evaluate the results obtained in research regarding Hajdu–Cheney Syndrome. The findings are reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and were registered on the web PROSPERO under the registration number CRD42020164377. A bibliographic search was carried out using the online databases Orphanet, PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles were included, and after their analysis, we have obtained a series of hypotheses as results that will support further studies on this matter.
Keywords	Hajdu–Cheney syndrome ; acroosteolysis ; receptor ; NOTCH2 ; connective tissue ; rare diseases ; Medicine ; R
Subject code	610
Language	English
Publishing date	2020-08-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Effects of Meditation on Mental Health and Cardiovascular Balance in Caregivers

Lourdes Díaz-Rodríguez / Keyla Vargas-Román / Juan Carlos Sanchez-Garcia / Raquel Rodríguez-Blanque / Guillermo Arturo Cañadas-De la Fuente / Emilia I. De La Fuente-Solana

International Journal of Environmental Research and Public Health, Vol 18, Iss 617, p

2021 Volume 617

Abstract: Background: Caring for a loved one can be rewarding but is also associated with substantial caregiver burden, developing mental outcomes and affecting happiness. The aim of this study was to determine the effects of a four-week, 16-h presential ... ...

Abstract	Background: Caring for a loved one can be rewarding but is also associated with substantial caregiver burden, developing mental outcomes and affecting happiness. The aim of this study was to determine the effects of a four-week, 16-h presential meditation program on physiological and psychological parameters and vagal nerve activity in high-burden caregivers, as compared to a control group. Methods: A non-randomized repeated-measures controlled clinical trial was conducted. Results: According to the ANCOVA results, the global happiness score (F = 297.42, p < 0.001) and the scores for all subscales were significantly higher in the experimental group than in the control group at 5 weeks. Anxiety levels were also significantly reduced in the experimental group (F = 24.92, p < 0.001), systolic (F = 16.23, p < 0.001) and diastolic blood (F = 34.39, p < 0.001) pressures, and the resting heart rate (F = 17.90, p < 0.05). HRV results revealed significant between-group differences in the HRV Index (F = 8.40, p < 0.05), SDNN (F = 13.59, p < 0.05), and RMSSD (F = 10.72, p < 0.05) in the time domain, and HF (F = 4.82 p < 0.05)) in the frequency domain, which were all improved in the experimental group after the meditation program. Conclusions: Meditation can be a useful therapy to enhance the mental health and autonomic nervous system balance of informal caregivers, improving symptoms of physical and mental overload.
Keywords	meditation ; vagal nerve activity ; high-burden caregivers ; mental health ; Medicine ; R
Subject code	796
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Autonomic Imbalance in Lymphoma Survivors

Keyla Vargas-Román / Jonathan Cortés-Martín / Juan Carlos Sánchez-García / Raquel Rodríguez-Blanque / Emilia Inmaculada De La Fuente-Solana / Lourdes Díaz-Rodríguez

Journal of Clinical Medicine, Vol 10, Iss 4391, p

2021 Volume 4391

Abstract: Among the types of blood cancers, non-Hodgkin lymphoma is the most common. The usual treatments for this type of cancer can cause heart failure. A descriptive observational study was conducted that included 16 non-Hodgkin lymphoma survivors and 16 ... ...

Abstract	Among the types of blood cancers, non-Hodgkin lymphoma is the most common. The usual treatments for this type of cancer can cause heart failure. A descriptive observational study was conducted that included 16 non-Hodgkin lymphoma survivors and 16 healthy controls matched by age and sex. Vagal tone was evaluated in the short term with a three-channel Holter device, and the time and frequency domains were analyzed following a previously accepted methodology to evaluate cardiac autonomic balance. The results of the analysis revealed that the standard deviation of the NN interval (F = 6.25, p = 0.021) and the square root of the mean of the sum of the differences between NN intervals (F = 9.74, p = 0.004) were significantly higher in healthy subjects than in lymphoma survivors. In the heart rate variability (HRV) index, there were no significant differences between the groups (F = 0.03, p = 0.85), nor in the parameters of the frequency domains LF (F = 1.94, p = 0.17), HF (F = 0.35, p = 0.55), and the ratio LF/HF (F = 3.07, p = 0.09). HRV values were lower in non-Hodgkin lymphoma survivors in the first year after treatment, resulting in autonomic imbalance compared to healthy paired subjects.
Keywords	lymphoma cancer ; HRV ; autonomic nervous system ; non-Hodgkin lymphoma ; Medicine ; R
Subject code	796
Language	English
Publishing date	2021-09-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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