Nursing Care Plan for Patients with Tay–Sachs—A Rare Paediatric Disease

Tay–Sachs disease is classified as a rare paediatric disease of metabolic origin. It is an autosomal recessive inherited disease. The gene responsible for the disease is known as HEXA, and it is located on chromosome 15(15q23). There is currently no effective treatment for Tay–Sachs disease; hence, it is an incurable disease in which patients do not live for more than five years, meaning that nursing care takes on greater importance to maintain quality of life. The main objective of this work is to develop a specific standard nursing care plan by applying an inductive research method supported by nursing methodology using the NANDA-NIC-NOC taxonomy and validated by the Delphi method. This care plan will improve the knowledge of health professionals on this topic and support future studies on the disease. Following its implementation, the care plan proposed in this study aims to increase the quality of life of patients diagnosed with this disease

Nursing Care Plan for Patients with Hajdu–Cheney Syndrome

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

Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Arnold Chiari Syndrome; Hydrocephalus; ScoliosisSíndrome de Arnold Chiari; Hidrocefalia; EscoliosisSíndrome d'Arnold Chiari; Hidrocefàlia; EscoliosiArnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high. The aim of this review is to update all the existing information on this pathology by means of an exhaustive analysis covering all the scientific literature produced in the last 5 years. In addition, it has been carried out following the PRISMA model and registered in PROSPERO with code CRD42023394490. One of the main conclusions based on the results obtained in this review is that the origin of the syndrome could have a genetic basis and that the treatment of choice is the decompression of the posterior cerebral fossa

Safety and Effect of the Use of Hydrotherapy during Labour: A Retrospective Observational Study

Background: Hydrotherapy is a technique used for pain management during labour, but its safety for both the mother and foetus remains uncertain. Objective: The main aim of this study is to determine whether the use of hydrotherapy in the first stage of labour is safe for both the mother and newborn. Methods: A retrospective observational study was conducted to collect data from the partogram, maternal and neonatal history. Results: A total of 377 women who gave birth at the Costa del Sol Hospital in Malaga between January 2010 and December 2020 were randomly selected. They were divided into a control group (253 women) and an intervention group (124 women) that used hydrotherapy in the first stage of labour. There were no significant differences between the groups in terms of age, history of previous miscarriages, type of delivery, or newborn weight. The results showed that most women who opted for hydrotherapy were nulliparous, and the use of hydrotherapy during labour was safe for both the mother and foetus. There were no significant differences in the variables of maternal arterial hypotension, postpartum haemorrhage, postpartum maternal fever, foetal complications, neonatal admission, 1 and 5 min Apgar scores, umbilical arterial or venous pH, or foetal cardiotocographic recording. However, there was a significant difference (p = 0.005) in the rate of breastfeeding among mothers who opted for hydrotherapy (96% vs. 85.7%). Conclusions: The use of hydrotherapy during the first stage of labour is safe and is associated with increased breastfeeding rates compared to conventional delivery.University of GranadaOfficial College of Nursing of Granad

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

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

Physical Therapies in the Treatment of Post-COVID Syndrome: A Systematic Review

Introduction: Several days to months after diagnosis of SARS-CoV-2, 35% of patients have persistent symptoms in high incidence. This is referred to as post-COVID-19 Syndrome. There is a pressing need to find a way to help patients with the manifested symptoms. Objective: To show the different therapies that exist for post-COVID Syndrome and their efficacy. Methodology: A systematic review of the scientific literature was carried out. The data search was carried out in Scopus, PubMed, Cinahl, andWeb of Science. Of the 106 articles found, 12 articles were obtained after applying the following eligibility criteria. Results: Interventions related to respiratory musculature and moderate intensity exercise both in supervised face-to-face sessions and in supervised home sessions led patients to a significant improvement in the symptoms presented. Conclusion: Physical therapies significantly reduce fatigue and dyspnea as well as other symptoms related to quality of lif

Hajdu-Cheney Syndrome: A Systematic Review of the Literature.

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

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

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

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

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

Nursing Care Plan for Patients with Hajdu–Cheney Syndrome

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