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1.
Healthcare (Basel) ; 12(3)2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38338258

RESUMEN

BACKGROUND: Although there is scientific evidence regarding the use of water immersion during labor, this evidence is primarily focused on the first stage of labor. There is limited scientific evidence on water immersion during the second stage of labor. OBJECTIVE: The objective of this study was to conduct a comprehensive systematic review and synthesis of contemporary evidence related to water birth, with a specific focus on the second stage of labor. METHODS: A systematic review of the scientific literature published between January 2018 and October 2023 was carried out. A synthesis of the results was conducted following the Synthesis without Meta-Analysis (SWiM) guidelines. PubMed, Scopus, and the Cochrane Library were utilized as information sources. The search strategy was designed using the keywords "immersion" and "parturition", along with their relevant synonyms. Inclusion criteria encompassed studies employing randomized controlled trials (RCTs), systematic reviews, and quantitative and qualitative approaches focusing on pregnant women undergoing water immersion at any stage of the labor process. RESULTS: Eleven articles were selected: two systematic reviews (one quantitative and one qualitative), five cohort studies, one case-control study, one cross-sectional observational study, and two qualitative studies. A thorough assessment of the methodology was performed using several specific tools: the Cochrane RoB 2 (Risk of Bias 2) tool for systematic reviews, JBI Critical Appraisal Checklist for Qualitative Research for qualitative studies, STROBE for observational descriptive studies, and CASPe for qualitative studies. The results provided fundamental insights that will contribute to conceptual standardization regarding the effects of water birth on maternal and fetal health. Additionally, a synthesis of the results was performed concerning types of delivery, analgesia use, pain perception, and maternal satisfaction with the water birth experience. CONCLUSIONS: In this study, we conclude that the results regarding delivery types, labor durations, and analgesia use found in the literature, along with statistically significant maternal/fetal effects, are crucial for making recommendations regarding the use of water during labor in any of its stages if the woman desires it safely.

2.
J Clin Med ; 12(23)2023 Nov 23.
Artículo en Inglés | MEDLINE | ID: mdl-38068323

RESUMEN

With the aging of the population in developed countries, the number of middle-aged and older women is progressively increasing. During this stage, women suffer from a number of signs and symptoms that could be reduced or treated with physical exercise and dietary supplements. The main objective of this study was to analyse the benefits of exercise and dietary supplements during menopause. MATERIALS AND METHODS: A systematic review of the scientific literature was performed according to the PRISMA 2020 protocol, searching the PubMed, Cochrane, Scopus, and WOS databases. Studies that met the inclusion criteria were assessed for methodological quality using the PEDro or AMSTAR-2 scales. RESULTS: The searches yielded a total of 104 results, of which 10 were selected, with methodological quality ranging from fair to excellent. Each article examined the combination of a dietary supplement plan versus a placebo; plus an exercise routine versus another routine or a sedentary lifestyle. The results showed the benefits of combining a nutritional supplementation plan with an exercise routine during menopause. CONCLUSIONS: The practice of weekly strength and endurance exercises, together with the consumption of certain dietary supplements, may be a good resource for coping with menopause in a healthy way.

3.
Diseases ; 11(4)2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-37987274

RESUMEN

Prolonged COVID is a persistent condition following the initial COVID-19 infection, which is characterized by a variety of symptoms that may include fatigue, muscle pain, sleep disturbances, "brain fog", respiratory, cardiovascular, digestive, neurological and dermatological symptoms. Physical therapy has been identified as a crucial aspect of the management of patients with long COVID, as it can help improve symptoms and overall physical function. The investigation of long COVID poses significant challenges due to the diversity and variability of symptoms, lack of clear diagnostic criteria, and limited understanding of the underlying mechanisms. The aim of this study is to conduct a systematic review of studies conducted in patients with long COVID in conjunction with interventions targeting respiratory function, particularly involving physical activity. To this end, we conducted a systematic review to analyze studies conducted on treatment programs for long COVID based on some form of physical activity. The protocol of the review was registered in the PROSPERO website, and the databases PubMed, Scopus, CINAHL and WOS were searched. Of the 62 initial articles, six were included in the review. The results obtained have positive implications for the advancement of physical activity as a therapeutic intervention for individuals with long COVID-19 and the conceptualization of evidence-based treatment protocols. Statistically significant results have been observed in studies of at least 6 weeks duration, in which inspiratory muscle training exercises are proposed. Further research is needed to better understand long COVID and develop effective treatment strategies.

4.
J Clin Med ; 12(20)2023 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-37892831

RESUMEN

Arnold 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.

5.
J Clin Med ; 12(17)2023 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-37685684

RESUMEN

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.

6.
Biomedicines ; 11(8)2023 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-37626749

RESUMEN

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, and Web 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 life.

7.
J Pers Med ; 13(8)2023 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-37623472

RESUMEN

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.

8.
J Clin Med ; 12(16)2023 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-37629458

RESUMEN

Hemophilia is a chronic, congenital/hereditary and X-linked disease, characterized by an insufficiency of factors VIII or IX, which are necessary for blood clotting. Those affected by hemophilia often suffer from particular psychosocial problems, both in the acceptance, coping, treatment and self-management of their disease and in their family and social relationships, which are often mediated by these circumstances. The aim of this study was to explore the experiences of people with hemophilia or their family members, of in a specific region of Spain, regarding the impact of having hemophilia. Structured interviews were conducted and developed, using the studies of the World Federation of Hemophilia and Osorio-Guzmán et al. as a guide, as well as a literature review of qualitative work on hemophilia. Data were analyzed using a six-step thematic analysis. A total of 34 interviews were thematically analyzed. The results showed that three key themes emerged from the data: (1) the daily impact of having hemophilia, (2) uncertainty about the disease, (3) the role of associations and (4) support from institutions. The results make it clear that the disease has a major impact on their lives (work, family, leisure and personal environment). The main conclusion is that hemophilia has a negative impact on the daily lives of patients, families and caregivers.

9.
JMIR Res Protoc ; 12: e37857, 2023 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-37285326

RESUMEN

BACKGROUND: Lactobacillus coryniformis K8 CECT5711 has immune-modulating properties, enhances the immune response to viral antigens leading to the production of specific antibodies, and has anti-inflammatory activity, which may help to prevent uncontrolled inflammatory processes leading to respiratory and other organ failures. OBJECTIVE: The purpose of this study is to evaluate the effect of the consumption of a probiotic strain on the incidence and severity of COVID-19 in health personnel who carry out their professional work among patients with infection or suspected infection by SARS-CoV-2. METHODS: This is a double-blind randomized clinical trial in which the experimental group will receive a capsule of L coryniformis K8 per day (3×109 colony former units/day), and the control group will receive a daily placebo capsule consisting of maltodextrin. A sample size of 314 volunteers was calculated. Volunteers must meet the following inclusion criteria: older than 20 years and active health personnel caring for patients with COVID-19, including all professionals such as medical doctors, nurses, and caretakers at the 2 referral hospitals that treat patients with COVID-19. The main outcome of the clinical trial will be the incidence of symptomatic infection by SARS-CoV-2 in personnel who care for patients with suspected or confirmed COVID-19. RESULTS: The study had to be extended to the 2 referral hospitals that treat patients with COVID-19 in the province of Granada (Andalusia, Spain); Hospital San Cecilio and Hospital Virgen de las Nieves. A total of 255 individuals met the inclusion criteria and were randomly assigned to one of the 2 groups. CONCLUSIONS: The results of this randomized controlled trial will provide valuable information regarding the administration of L coryniformis K8 against COVID-19, including whether there are fewer infectious processes due to this virus or, in case of occurrence, whether the disease is milder in participants taking the probiotic strain. TRIAL REGISTRATION: ClinicalTrials.gov NCT04366180; http://www.clinicaltrials.gov/ct2/show/NCT04366180. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR1-10.2196/37857.

10.
Healthcare (Basel) ; 11(9)2023 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-37174893

RESUMEN

Rare diseases, also known as orphan diseases, are medical conditions that affect a small percentage of the population [...].

11.
J Pers Med ; 13(5)2023 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-37240882

RESUMEN

This study aimed to examine the influence of new ICTs on the recording of nursing interventions in the Emergency Unit of the High Resolution Hospital (HRH) of Loja (Granada), Spain. A descriptive observational study was conducted to analyze the evolution of the Nursing Interventions (NIC) records in the Emergency Unit of the Loja HRH (Granada) from 2017 to 2021. Results showed that 11,076 NIC registrations were exploited, which increased by 51.2% from 2017 to 2021. The linear correlation between the NIC and the years was analyzed with Spearman's coefficient, obtaining a low level of correlation (p = 0.166), but one that is statistically significant (p < 0.001). The introduction of tablet devices in the emergency room of the Loja HRH (Granada) led to a significant increase in the percentage of NIC recorded and collated during the study period without increasing the number of emergencies attended. However, usability barriers of ICTs were detected, highlighting the need to guide and train health professionals in their use and in the culture of patient safety.

12.
Artículo en Inglés | MEDLINE | ID: mdl-36767541

RESUMEN

In healthcare practice, there may be critically injured patients in whom catheterisation of a peripheral venous access is not possible. In these cases, intraosseous access may be the preferred technique, using an intraosseous vascular access device (IOVA). Such devices can be used for infusion or administration of drugs in the same way as other catheterisations, which improves emergency care times, as it is a procedure that can be performed in seconds to a minute. The aim of this study was to analyse the level of knowledge of nursing staff working in emergency departments regarding the management of the intraosseous vascular access devices. To this end, a cross-sectional online study was carried out using an anonymous questionnaire administered to all professionals working in emergency and critical care units (ECCUs) in Granada district (Spain). The results show that 60% of the participants believe that with the knowledge they have, they would not be able to perform intraosseous vascular access, and 74% of the participants believe that the low use of this device is due to insufficient training. The obtained results suggest that the intraosseous access route, although it is a safe and quick way of achieving venous access in critical situations, is considered a secondary form of access because the knowledge of emergency and critical care professionals is insufficient, given the totality of the participants demanding more training in the management of intraosseous access devices. Therefore, the implementation of theoretical/practical training programmes related to intraosseous access (IO) could promote the continuous training of nurses working in ECCUs, in addition to improving the quality of care in emergency and critical care situations.


Asunto(s)
Urgencias Médicas , Servicios Médicos de Urgencia , Humanos , Estudios Transversales , Servicio de Urgencia en Hospital , Infusiones Intraóseas/métodos , Hospitales
13.
Children (Basel) ; 10(2)2023 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-36832500

RESUMEN

Paediatric flexible flatfoot (PFF) is a very common condition and a common concern among parents and various healthcare professionals. There is a multitude of conservative and surgical treatments, with foot orthoses (FO) being the first line of treatment due to their lack of contraindications and because the active participation of the child is not required, although the evidence supporting them is weak. It is not clear what the effect of FO is, nor when it is advisable to recommend them. PFF, if left untreated or uncorrected, could eventually cause problems in the foot itself or adjacent structures. It was necessary to update the existing information on the efficacy of FO as a conservative treatment for the reduction in signs and symptoms in patients with PFF, to know the best type of FO and the minimum time of use and to identify the diagnostic techniques most commonly used for PFF and the definition of PFF. A systematic review was carried out in the databases PubMed, EBSCO, Web of Science, Cochrane, SCOPUS and PEDro using the following strategy: randomised controlled trials (RCTs) and controlled clinical trials (CCTs) on child patients with PFF, compared to those treated with FO or not being treated, assessing the improvement of signs and symptoms of PFF. Studies in which subjects had neurological or systemic disease or had undergone surgery were excluded. Two of the authors independently assessed study quality. PRISMA guidelines were followed, and the systematic review was registered in PROSPERO: CRD42021240163. Of the 237 initial studies considered, 7 RCTs and CCTs published between 2017 and 2022 met the inclusion criteria, representing 679 participants with PFF aged 3-14 years. The interventions of the included studies differed in diagnostic criteria, types of FO and duration of treatment, among others. All articles conclude that FO are beneficial, although the results must be taken with caution due to the risk of bias of the included articles. There is evidence for the efficacy of FO as a treatment for PFF signs and symptoms. There is no treatment algorithm. There is no clear definition for PFF. There is no ideal type of FO, although all have in common the incorporation of a large internal longitudinal arch.

14.
Healthcare (Basel) ; 11(4)2023 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-36833013

RESUMEN

Pregnancy is a vital event in a woman's life that involves not only important physical changes, but also psychological changes [...].

15.
Artículo en Inglés | MEDLINE | ID: mdl-36768112

RESUMEN

Among the main preventable causes of death in the area of operations is external exsanguinating hemorrhage in the extremities, hence the importance of the tourniquet as a therapeutic tool in this type of injury and, therefore, of the training of personnel participating in international missions. The main objective of this study is to determine the impact of training in the application of this device. This is a quasi-experimental, prospective, cross-sectional study, carried out with 97 healthy volunteers, military personnel who perform their work in the Royal Guard barracks of El Pardo. The study was conducted between June 2019 and July 2021. The correct determination of the device placement site and the times of correct device placement were evaluated by determining whether there was blood flow using Doppler ultrasound measurements. Statistically significant results were obtained for application time (76.68 s to 58.06 s; p < 0.001), correct device placement (p < 0.001), and achievement of complete ischemia in the upper extremity (23.7% pretest vs. 24.7% post-test; p < 0.001). In the lower extremity, after training, longer application duration (43.33 s to 47.30 s) and lower ischemia achievement (59.8% pretest vs. 37.8% post-test) were obtained. Standardized and regulated training improves device application. More intensive training is necessary to obtain better results.


Asunto(s)
Hemorragia , Torniquetes , Humanos , Hemorragia/terapia , Estudios Transversales , Estudios Prospectivos , Extremidad Inferior
16.
J Clin Med ; 13(1)2023 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-38202044

RESUMEN

Gestational diabetes mellitus (GDM) is defined as hyperglycaemia first detected at any time during pregnancy with values lower than those determined by the WHO for diabetes diagnosis in adults. This pathology, with a worldwide prevalence of 13.4%, causes significant maternal and foetal risks. The first line of treatment consists of maintaining normo-glycaemia through an adequate diet and lifestyle changes. The aim is to synthesize the scientific evidence updating the nutritional recommendations for the effective management of GDM. A systematic review of the scientific literature was conducted following the PRISMA guidelines. Randomized clinical trials published within the last five years and providing information on nutritional recommendations to achieve an effective management of gestational diabetes were selected. The databases searched were PubMed, the WOS Core Collection, SCOPUS, and CINAHL, using the MeSH terms: "Diabetes, Gestational"; "Nutrition Assessment (nutrition*)"; "Diet"; "Eating"; and "Food"; with the Boolean operators "AND" and "OR". The PEDro scale (Physiotherapy Evidence Database) was used to assess the scientific quality of the studies, with a mean score of 8.9, indicating an average good scientific quality. Results: A total of 809 papers were collected, of which, after applying the inclusion and exclusion criteria, 14 randomized clinical trials were selected. Probiotic supplementation and co-supplementation with vitamin D have been found to be the most beneficial options for both mothers with GDM and neonates, but the most effective regimens are not known. Diets enriched with extra virgin olive oil (EVOO) and oat bran, as well as some recommendations focused on carbohydrates also seem effective, as well as diets designed for this group of women with GDM such as "CHOICE". Conclusions: Although there are numerous proposals that have been published in recent years focused on the diet of women with GDM in order to improve their results and those of their children, it is the supplementation with probiotics and the co-supplementation with vitamin D that is most agreed upon as beneficial; however, more research is needed into which protocols are most effective. Other proposals that could also be beneficial should be further studied.

17.
Children (Basel) ; 9(11)2022 Oct 28.
Artículo en Inglés | MEDLINE | ID: mdl-36360374

RESUMEN

The aim of this research is to describe the evolution of the pandemic in a school context, following the introduction of school nurses into the educational setting. BACKGROUND: The first wave of COVID-19 in Spain prevented social interaction by imposing lockdowns on the population. All non-essential activities, including face-to-face education, were interrupted, affecting the school-aged population during the second and third trimester of the 2019/2020 school year. Schools are places where prevention, identification and case management measures should be rapidly implemented. METHODS: This is a prospective and descriptive study using a quantitative method to study the school population of Granada and its province during the school year 2020/2021, from September 2020 to May 2021. The study participants were all schools under the jurisdiction of the Territorial Delegation of Education of Granada, whether public, private, state-subsidised or charter schools, including all educational stages. RESULTS: The confirmation rate in Granada city (11.2%), in contrast to the Andalusian average (6.9%), places Granada as the province with the highest incidence rate. The infection rates among teachers show the same confirmation rate as the general population of Granada (9%); however, among students this rate is lower (7%). There is a higher incidence of outbreaks taking place outside school and a lower incidence of outbreaks occurring within the school environment. Both partial and total outbreaks are more frequent in early childhood education. CONCLUSION: The early identification and management of reported suspected cases of COVID-19 in schools is proving effective in preventing infection in the school population, achieving good pandemic control in schools, and reducing the number of outbreaks and people affected. Schools have been confirmed to be safe. Establishing screening for asymptomatic schoolchildren could be a tool to improve control in schools.

18.
J Clin Med ; 11(19)2022 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-36233462

RESUMEN

Background: Practicing physical exercise is a way of maintaining a healthy lifestyle and it has been demonstrated to provide benefits and improve quality of life after labour. Aim: The objective of this study is to determine if performing a moderate hypopressive exercise program after childbirth improves the HRQoL of women. Materials and Methods: A 12-week randomized clinical trial was carried out. The women in the exercise group followed a training program based on the hypopressive method, which comprises postural and respiratory exercises of moderate intensity. We used the SF-36v2 questionnaire to assess the Health-Related Quality of Life in women. Results: We found statistically significant differences (p < 0.05) in general health components, vitality, emotional role, and mental health in the sample group of exercise group of women, who obtained a higher score. We found statistically significant differences in all aspects between the groups. The interaction between time and group affect in general health components, vitality, emotional role and the score of mental components. In all of them, the score was higher at the end of the programme and in the exercise group. Conclusions: The training program with hypopressive physical exercise improves the quality of life after childbirth. According to the guidelines recommended by the ACOG, the hypopressive method is valid for the improvement of HRQoL in women who perform this method at 16 weeks of delivery. Further studies are recommended to start such exercises one week after delivery in postpartum women.

19.
Biomedicines ; 10(10)2022 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-36289816

RESUMEN

Pregnant women are included in the COVID-19 risk groups even if they do not have any pathology. This requires an analysis of research focused on pregnant women to understand the impact of SARS-CoV-2 on their condition. There is also a need to know whether there is vertical mother-to-child transmission, as well as other consequences in case the pregnant woman is infected and COVID-19 positive. A systematic review was carried out to analyze the existing information on the complications of a pregnant woman infected with the SARS-CoV-2 coronavirus and the possibility of vertical transmission from mother to child, registered in the PROSPERO website and searched in the PubMed, Scopus, CINAHL, and Cochrane Library databases. Finally, 22 articles were included in the review. The review suggests that vertical transmission from mother to child could be exceptionally possible at the time of delivery or breastfeeding, but not through the placenta. It is interesting to point out the good acceptance of vaccination by pregnant women, which may be the reason for the low infectivity. Further research on pregnant women should be carried out to provide evidence on vertical mother-to-child transmission and the role of breast milk in relation to SARS-CoV-2.

20.
J Clin Med ; 11(17)2022 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-36079132

RESUMEN

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.

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