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Objective: to learn about care practices for people with Huntington's disease. Method: a qualitative study using the Patient- and Family-Centered Care framework, carried out with 20 family caregivers of people with Huntington's disease. Data was collected through semi-structured interviews, in February and March 2022, via Google Meet, and after being transcribed in full, it was submitted to Content Analysis. Results: The practice of caring for people with Huntington's requires adapting to the environment, readjusting the routine, and improvising aids. The difficulty in obtaining a diagnosis makes family members proactive in their search for knowledge to improve care conditions. Conclusion: although this is a rare disease, the care actions mentioned are like those carried out for people with other chronic diseases. However, recognizing the care practices carried out by family members can help nurses plan their care.

Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive monogenic disease, affecting 1:1,000,000000. A hallmark of the disease is the severe hypertriglyceridemia caused by either lipoprotein lipase (LPL) enzyme deficiency or one of its cofactors, compromising triglycerides (TG) metabolism. The index case is a 2 months old male infant with severe hypertriglyceridemia, level at presentation was extremely high 33280 mg/dL, hepatomegaly, steatosis and lipemia retinalis. Exchange transfusion blood was performed to reduce triglycerides to acceptable levels and to minimize the potential for acute pancreatitis and clinical signs related to hypertriglyceridemia. Sequencing of the LPL gene revealed a compound heterozygous pathogenic variants. This report highlights the importance of clinical suspicion for early diagnosis of severe hypertriglyceridemia, which is needed for prompt management and prevention of severe complications and risk of death.

Rare disease or an orphan disease is a disease that affects a small percentage of the population. Most of these diseases are present throughout the patients life, even if the symptoms do not appear immediately. They are often fatal or chronically debilitating and the impact on the quality of life of patients and their families is significant. Patients with rare diseases often experience delays in diagnosis, which can negatively impact management and delay treatment. Familial genetic testing or cascade genotyping of all newly diagnosed individuals can speed up the diagnosis of these diseases and allow more patients to be identified at a younger age. Care for patients with chronic and rare diseases is complex, mainly due to lack of knowledge about the disease, which makes accurate and early diagnosis difficult, in addition to the need to perform specific tests, which are sometimes highly complex and costly. Added to these factors are difficulties in obtaining adequate treatment when available, raising awareness of the patient and family about the disease and adherence to treatment.A multidisciplinary approach is very important: care provided by a doctor, nurse, psychologist, nutritionist and social worker. These professionals, in addition to medical care, address the particularities of the disease and treatment, the impact on the life of the patient and his family, the approach to psychological and social issues, and guidance regarding medications and diets.

Objective. To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods. Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers. Results. Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autosomal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil. Conclusions. The results of the review reinforce that rare diseases and congenital anomalies can occur in a non-random way in space, which is discussed in the perspective of the complex history of formation, social organization, and genetic structure of the South American population. Mapping clusters in population medical genetics can be an important public health tool, given that such places concentrate cases of rare diseases that frequently require multiprofessional, specialized care. Therefore, these results can support important agendas in public health related to rare diseases and congenital anomalies, such as health promotion and surveillance.

Introdução: Access to drugs for rare diseases constitutes a challenge to healthcare systems, especially those with public funding. The difficulty of conducting robust clinical trials limits the quality of evidence and elevates the cost of development, later translated into the drug’s prices. Thus, it is necessary for the Health Technology Assessment (HTA) agencies to have differentiated criteria for the evaluation of reimbursement recommendations when dealing with such drugs. Objetivos: The objective of this research is to identify and summarize the specific criteria used when evaluating reimbursement recommendations for orphan drugs that are adopted by HTA agencies in countries with different models of public healthcare systems. Material e Método: A comprehensive literature search was performed on the databases PubMed, LILACS, Scopus and Embase up to March 2022. We included any publication type (opinion articles, commentaries, editorials, original articles and reviews) that addressed the criteria used by HTA agencies in countries with public healthcare systems when evaluating reimbursement recommendations for orphan drugs. Resultados: This scoping review summarizes the identified criteria for 18 countries and ranks them within three models of healthcare systems (NHS, NHI and SHI). We identified that NHS countries, such as the UK, Sweden, and Italy, lean towards innovation, the collection of real-world data, and the impact on organizational aspects of the system. Meanwhile, SHI countries, such as Germany, France and the Netherlands, often employ budget ceilings and expedited evaluation processes. All models shared concern over unmet need and disease nature. The 16 included studies range from 2015 to 2022 and the majority consists of reviews of HTA reports and original articles. Discussão e Conclusões: This review provides a good basis for the understanding of each model’s classification and general tendencies when creating differentiated criteria to accommodate and compensate for the lack of evidence and investment around rare diseases.

ABSTRACT Spinal Muscular Atrophy (SMA) is a neurodegenerative disease that impairs motor function, justifying the help of a caregiver. This study aimed to analyze the impact of the motor function of individuals with SMA on caregiver burden. This is a cross-sectional study of 32 individuals with SMA and 27 caregivers, carried out in a rehabilitation center, using the identification questionnaire, anamnesis and sociodemographic profile, Motor Function Measurement Scale and Burden Interview. Motor function and caregiver burden were compared between SMA types using the analysis of covariance (ANCOVA) and correlated using Pearson’s correlation test. Individuals with SMA type I had greater impairment of motor function when compared to types II and III, and individuals with type III had better scores in all domains of motor function. No correlation was observed between motor function and caregiver burden: however, most caregivers presented some level of burden, especially those from mild to moderate. Moderate to severe burden was found in caregivers with SMA in a considerable prevalence, which requires care and attention from health professionals.

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Introduction: Bladder exstrophy is a congenital anomaly which includes the exteriorization of the bladder and urethra. This case report aims to expand the knowledge of both the medical community and families seeking information about this pathology. Case report: The medical team observed irregularities in the newborn patient: exposed bladder, external rotation of the pelvic bones, diastasis in the pubic area, anterior displacement of the anus, and a bifid clitoris. These irregularities allowed the diagnosis of classic bladder exstrophy associated with epispadias. Due to the delay in diagnosis, the first stage of the Modern Staged Repair (MSR) method of surgical correction only occurred on the 14th day postpartum. After the surgery, the patient evolved with postoperative complications. After 9 months, she underwent another surgery, as the doctors chose to do a bilateral osteotomy and a bladder neck plastic surgery. Up to the present moment, the patient is in good general condition and the family awaits the next surgery. Conclusion: The patient, diagnosed with bladder exstrophy associated with the development of epispadias, does not have the most severe form of the disease. However, it is still a rare form with complex managing. [ABSTRACT FROM AUTHOR]

Understand the perceptions and experiences of four caregivers of children and adolescents with picnodisostosis were analyzed, identifying difficulties encountered in the care pathway. Qualitative study, with oral history method and hermeneutic enomenology. The interlocutions started from problematizing issues investigating the vulnerability of the caregiver. The trajectory of the pairs is exhaustive until they gain access to the specialized genetic service of the Unified Health System (SUS) and diagnostic definition. The speeches reveal longings and emotions reflecting difficulties, and feelings of resilience and acceptance emerge in the stories. The speeches reveal the fragility of the health system, the difficulties faced in accessing specialists in the public health system, and the precise diagnosis for rare diseases, thus avoiding long therapeutic itineraries, a factor of negative impact on the psychological stability of caregivers. [ABSTRACT FROM AUTHOR]

INTRODUCTION: The increase in ferritin is a common finding in clinical practice, and may have several causes, such as inflammatory, neoplastic and liver diseases. In addition, ferritin represents the bodys iron stores. The syndrome of hereditary hyperferritinemia and cataract (SHHC) is a rare pathology, which is part of the differential diagnosis of the causes of increased ferritin. The diagnosis of SHHC has a great impact for the patient, as it avoids unnecessary therapeutic interventions, such as bleeding. DESCRIPTION: In the present study, a case of SHHC in a healthy preschooler is reported, in which the finding of elevated ferritin was obtained in an occasional test. The child was submitted to an extensive diagnostic procedure, performed to rule out other causes. DISCUSSION: The prevalence of SHHC is unknown in Brazil, and its variable penetrance can make it difficult to perceive the hereditary character. Thus, this case report and literature review has the importance of alerting about the existence of the pathology, so that pediatricians and other health professionals can make this diagnosis.

Abstract Superior mesenteric artery syndrome designates compression of the third part of the duodenum between the superior mesenteric artery and the aorta. This condition has a low incidence, being more common in thin young women. Nutcracker syndrome is compression of the left renal vein between the superior mesenteric artery and the aorta. Both entities are rare, and their coexistence has been reported in a few cases. Conservative treatment targeting weight gain is sufficient in most cases. An association between the superior mesenteric artery syndrome and acute pancreatitis has rarely been reported. We intend to describe the case of an 18-year-old girl who was admitted to the emergency room with epigastric pain and emesis. Our investigation revealed acute acalculous pancreatitis. During work-up, we discovered superior mesenteric artery syndrome and a compressed left renal vein. The patient is on conservative treatment, and her symptoms have improved.

Juvenile glaucoma and retinoschisis are rare diseases alone. They occur bilaterally with early onset, resulting in severe visual loss. Juvenile glaucoma is mainly described in males, with high intraocular pressure, and juvenile retinoschisis is characterized by the formation of retinal cysts. This case reports a 16-year-old male patient with progressive visual loss that presents an association of both pathologies, which is an uncommon and severe involvement. After adequate diagnosis and drug treatment, the condition improved and did not require surgical intervention. [ABSTRACT FROM AUTHOR]

Copyright of Minas Gerais Medical Journal / Revista Médica de Minas Gerais is the property of Associacao Medica de Minas Gerais and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the diagnosis, screening, and treatment of adult and pediatric patients. This consensus document was organized from an initiative led by the Committee for Rare Diseases (Comdora) of the Brazilian Society of Nephrology (SBN). The review considered randomized clinical trials, real-world data studies, and the expertise of its authors. The purpose of this consensus statement is to help manage patient and physician expectations concerning the outcomes of treatment. Our recommendations must be interpreted within the context of available evidence. The decisions pertaining to each individual case must be made with the involvement of patients and their families and take into account not only the potential cost of treatment, but also concurrent conditions and personal preferences. The Comdora intends to update these recommendations regularly so as to reflect recent literature evidence, real-world data, and appreciate the professional experience of those involved. This consensus document establishes clear criteria for the diagnosis of FD and for when to start or stop specific therapies or adjuvant measures, to thus advise the medical community and standardize clinical practice.

Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rare diseases. This study aims to describe the genetic/clinical profile of patients seen at the Rare Diseases Outpatient Clinic of a referral pediatric hospital in southern Brazil. Methodology: This retrospective descriptive quantitative study looked into data from paper and electronic medical charts of patients seen at the Rare Diseases Outpatient Clinic and genetic test results of included patients stored in the platform of the hospital’s Clinical Analysis Laboratory. Results and Discussion: The study included 553 patient medical charts. Prevalence of male patients and aged between zero and 11 years was greater. The most commonly reported symptoms were dysmorphisms and congenital malformations (12.5%), developmental delay (11.0%) and seizures (10.5%). Only 24.7% of the molecular genetic tests presented altered results. Alterations were more notably seen in genes PHKA2, G6PC, FBP1, and CTNS. The number of altered test results was lower than expected. The greater availability and popularization of these tests can be noticed by the increase in the number of tests ordered. Increased awareness about molecular genetic testing is very positive and may help healthcare teams improve patient quality of life.

The nematode Lagochilascaris sp. belonging to the family Ascarididae is a parasite whose definitive host may be the cat. Considered a rare zoonosis in veterinary medicine, lagochilascariasis is responsible for causing luminal lesions and has a particular tropism for the cervical region and head. Infection occurs through the ingestion of undercooked meat from wild animals by humans and through hunting by felines. This work aims to carry out a survey of cases of lagochilascariasis that occurred in domestic cats in the cities of Bento Gonçalves, Farroupilha and Caxias do Sul, located in the Serra Gaúcha region. A survey was carried out through a questionnaire sent by email, during the months of April to July 2020, to 44 veterinarians from the municipalities of Bento Gonçalves, Farroupilha and Caxias do Sul, of which 13 (29.54%) were veterinarians from Bento. Gonçalves, 10 (22.73%) from Farroupilha and 21 (47.73%) from Caxias do Sul. Of these professionals, 17 (38.63%) have already treated cases of animals parasitized by this nematode; 9 (20.45%) in Bento Gonçalves; 3 (6.81%) in Farroupilha and 5 (11.36%) in Caxias do Sul. In total, 36 cases of lagochilascariasis were treated in the period from 2016 to 2020, with the highest occurrence being in the city of Bento Gonçalves, with 25 cases, followed by Caxias do Sul with 6 cases and Farroupilha with only 5 reported cases. Although the literature considers lagochilascariasis a rare disease, this survey shows that there are several cases happening in feline species in Serra Gaúcha.2. [ABSTRACT FROM AUTHOR]

The paper focus on rare diseases as a challenge to the Welfare State, particularly for the effectiveness of the right to health protection; a situation derived from the scientific uncertainty, intensifying the budgetary restrictions, but which can improve thanks to technological progress, specifically big data (studies). In order to find some legal remedy, the work deeps in the application of the notion of human dignity as a pillar of the human rights and all the public intervention in the Society; an option that seems conceptually clearer in Spain than in the European Union legal system. Particularly, given the framework of competences applicable in matters of public health and the controversial nature of the notion of human dignity. Finally, it is verified that the use of this notion is not fully supported by Spanish jurisprudence either. [ABSTRACT FROM AUTHOR]

Rare disease associations in Portugal: An important source of psychosocial support: This study aimed at characterizing the rare disease patients' associations, as a relevant source of psychosocial support. Thirty-eight participants were interviewed, from 23 patients' associations (or its regional sections), connected to Centro de Genética Preditiva e Preventiva. Three conceptual categories have emerged in their discourses: (1) mission of their associations; (2) current context of associative work; and (3) strategies used and existing opportunities. The most common limitations were (1) the difficulty in finding volunteers; (2) the low literacy about rare diseases; (3) the limited involvement of professionals and of the general population; and (4) difficulties with funding. Our results showed that associations do play a key role in the advocacy for patients with rare diseases; and that it is possible to reinforce their articulation with existing resources, facilitating their integration with healthcare services and, thus, maximizing their visibility. [ABSTRACT FROM AUTHOR]

Copyright of Dynamis is the property of Dynamis - Facultad de Medicina de la Universidad de Granada and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Dynamis is the property of Dynamis - Facultad de Medicina de la Universidad de Granada and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Lex Medicinae: Revista Portuguesa de Direito da Saúde is the property of Centro de Direito Biomedico and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Cadernos de Saude Publica is the property of Escola Nacional de Saude Publica Sergio Arouca and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: The regulation of specific registrations for the so-called "orphan drugs" has been a strategy of the largest drug agencies in the world to promote access and monitoring of treatment for diseases and conditions of low prevalence or market interest. Aims: This study aimed to identify the profile of drugs that fa ll into this category internationally and explore possible gaps in registration generated by the absence of a specific health standard in Brazil. Methods: Orphan drug registration databases from countries of the European Union and the United States of America were analyzed and the results were compared with the database of the Brazilian Agency. Results: A total of 369 drugs registered as orphans in European and US agencies were identified, totaling 801 clinical indications. Most of the drugs registered internationally were antineoplastic agents and immunomodulators (N=135; 36.59 %) and drugs that acted on the digestive system and metabolism (N=48; 13.01 %). Of the orphan drugs registered and marketed internationally, almost half, 177 (47.97 %), did not have active registrations in Brazil and meet 327 clinical indications (40.82 %). Conclusion: Brazil must analyze in depth the impacts of the absence of an orphan drug registration flow, which can directly affect access to treatment for certain rare and neglected diseases. [ABSTRACT FROM AUTHOR]

Churg Straus Syndrome is a rare disease and a less common type of vasculitis, its annual incidence and prevalence were 0.9-2.4 per million and 10.7-17.8 per million, respectively. Vasculitides are responsible for an important impact on the quality of life of those affected, being responsible for high values of incapacity for work. The aim of the present study is to report a case of eosinophilic granulomatosis with polyangiitis in a 25-year-old female patient. Conclusions: In the case in question, pulse therapy with corticosteroids was started for 3 consecutive days and then prednisone 1mg/kg/day was started. Although it is a serious pathology with a reserved prognosis, we observed a favorable evolution with the treatment instituted. Its diagnosis and early intervention improves the quality of life of patients and the prognosis of the disease. EGPA should be present as a differential diagnosis of peripheral eosinophilia associated with peripheral neuropathy and asthma. [ABSTRACT FROM AUTHOR]

Objective: To understand the therapeutic itinerary of individuals with rare diseases, from the onset of symptoms to diagnosis, in addition to the importance of nursing in this process. Methods: This is a qualitative, descriptive, exploratory study, carried out through the methodology of oral history. Data collection took place between September and October 2020, and was carried out through telephone calls, using a standard script, in which six individuals with rare diseases participated. Results: It took individuals between 1 month and 43 years to discover the diagnosis, with the main difficulty reported being the lack of knowledge of the disease by health professionals, with family support identified as a facilitator. In relation to nursing care, some participants highlighted this care and others did not. Conclusion: The therapeutic itinerary of patients with rare diseases is varied, showing the complexity of these diseases and that, for this reason, health teams generally do not know how to deal with rare patients, thus demonstrating the greater need to deepen and study this theme. [ABSTRACT FROM AUTHOR]

Background: Juvenile dermatomyosis (JDM) is a rare disease, although it is the most common inflammatory myopathy in childhood. The early therapy has been shown to considerably decrease disease morbidity and mortality. Due to the rarity of JDM, describing new cases becomes of great value for the process of continuing medical education in Pediatrics. Aim: To report a single case of JDM treated at our Service. Case Report: This was a patient with a history of delay in motor development, who was admitted to our Service at the age of two due to a fracture of the left femur. After the first hospitalization, she continued with follow-up in outpatient clinics of different specialties, in an attempt to investigate her condition in a multidisciplinary way. Later, she was admitted again with fever and pain in the right upper limb. During follow-up with the rheumatologist, it was observed that the patient had characteristic manifestations of JDM, such as photosensitive malar rash, heliotropes and Gottron's papules. Subsequently, she started treatment with methylprednisolone in pulse therapy for three days, in addition to cyclophosphamide cycles, ending the therapy with prednisone 2mg / kg / day. Since then, the patient has been followed up. Conclusion: JDM, despite its usual rarity, has characteristic signs such as photosensitive malar rash, proximal myopathy, heliotropes and Gottron's papules, which should always be considered in the early diagnosis and treatment. Furthermore, the identification of specific antibodies can be useful for the diagnosis of most patients, and unusual signs such as chorioretinopathy may indicate the presence of the disease. [ABSTRACT FROM AUTHOR]

Copyright of Revista Bioetica is the property of Conselho Federal de Medicina and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of JBES: Brazilian Journal of Health Economics / Jornal Brasileiro de Economia da Saúde is the property of JBES: Brazilian Journal of Health Economics and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Fabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. The purpose of the present study was to create a consensus aiming to standardize the recommendations regarding the renal involvement of FD with guidelines on the diagnosis, screening, and treatment of pediatric patients. This consensus is an initiative of the Rare Diseases Committee (Comdora) of the Brazilian Society of Nephrology (SBN). Randomized controlled clinical studies and studies with real-life data added to the authors' experience were considered for this review. The result of this consensus was to help manage patient and physician expectations regarding treatment outcomes. Thus, this consensus document recommends the investigation of the pediatric family members of an index case, as well as cases with suggestive clinical signs. From the diagnosis, assess all possible FD impairments and grade through scales. From an extensive review of the literature including pediatric protocols and particularly evaluating pediatric cases from general studies, it can be concluded that the benefits of early treatment are great, especially in terms of neuropathic pain and renal impairment parameters and outweigh the possible adverse effects that were mainly manifested by infusion reactions.

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Copyright of Enfermagem Brasil is the property of Atlantica Editora and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

It presents an ongoing study that aims to investigate how the area of Information Science works in sharing the sources of information about rare diseases. Developed from the perspective of the evidential paradigm, classified as qualitative, in terms of its approach; applied, as to its nature; exploratory, as to its objectives; bibliographic / documentary, as to its procedures. Data collection will be carried out through the use of web portals, virtual library and defined repositories. It expects to verify that the Information Science area acts in an incipient way in sharing the sources of information about rare diseases. [ABSTRACT FROM AUTHOR]

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ABSTRACT Objective: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. Case description: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. Comments: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

Endometriosis is characterized by the presence of endometrial tissue outside the uterine cavity. The pathophysiology of this condition is poorly understood. However, several hypotheses have been proposed, including the spread of endometrial cells via hematogenous or lymphatic routes. The clinical presentation is variable but includes a palpable nodule, cyclic bleeding, and changes in the color of the skin in the affected region. Diagnosis is established by clinical examination combined with imaging and lesion biopsy. The treatment of choice is surgical, with excision of the lesion and tissue reconstruction. We report the case of a 35-year-old female patient with umbilical endometriosis and the need for removal of the lesion with umbilical reconstruction. The presentation of this condition determines the diagnostic and management approach. Therefore, the exclusion of other benign or malignant disorders is essential.

Endometriosis is characterized by the presence of endometrial tissue outside the uterine cavity. The pathophysiology of this condition is poorly understood. However, several hypotheses have been proposed, including the spread of endometrial cells via hematogenous or lymphatic routes. The clinical presentation is variable but includes a palpable nodule, cyclic bleeding, and changes in the color of the skin in the affected region. Diagnosis is established by clinical examination combined with imaging and lesion biopsy. The treatment of choice is surgical, with excision of the lesion and tissue reconstruction. We report the case of a 35-year-old female patient with umbilical endometriosis and the need for removal of the lesion with umbilical reconstruction. The presentation of this condition determines the diagnostic and management approach. Therefore, the exclusion of other benign or malignant disorders is essential.

Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. Methods: Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening Program of the State of Minas Gerais. Results: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I – autosomal recessive form deficiency, and three with dihydropteridine reductase deficiency (30% each). Six patients were diagnosed due to clinical suspicion and four cases due to systematic screening in neonatal screening. After the start of the treatment, patients identified by neonatal screening had rapid improvement and improved neuropsychomotor development compared to those diagnosed by the medical history. Conclusions: The prevalence of BH4 deficiencies in Minas Gerais was slightly higher than that found in the literature, but the frequency among hyperphenylalaninemias was similar. Although rare, they are severe diseases and, if left untreated, lead to developmental delays, abnormal movements, seizures, and premature death. Early treatment onset (starting before 5 months of age) showed good results in preventing intellectual disability, justifying the screening of these deficiencies in newborns with hyperphenylalaninemia identified at the neonatal screening programs for phenylketonuria.

Objective: The aim of the present study was to analyze and understand the demands and profile of users of the outpatient clinic in questions so as to improve care. Method: A retrospective study was carried out that evaluated the medical records of 119 patients seen in 2018. Results: It was found that 90% of referrals for genetic evaluation were made by physicians from different specialties, with a predominance of pediatricians (19.3%), with 51.3 % of patients coming from Volta Redonda and the remainder from 14 other cities in Rio de Janeiro and Minas Gerais. Most patients (93.3%) were index cases and the rest were patients seeking genetic counseling. In the index cases, there was no gender difference and the predominant age group was between five and 9 years old. More than 50 genetic diseases were diagnosed, the most frequent being Down Syndrome, Turner Syndrome and Neurofibromatosis. Conclusion: Rare diseases have several causes, 80% of which are genetic. To treat patients with these conditions, specialized services are needed. Most of these are concentrated in the Southeast and South regions of Brazil, including the Clinical Genetics service from the UniFOA Faculty of Medicine, in Volta Redonda, state of Rio de Janeiro. The evaluated data help to understand the profile of patients and the demands of the health system of the region, making it possible to plan the training of professionals to identify patients with probable genetic diseases and organize the flow of referral to the service, incorporating a more effective logistics. [ABSTRACT FROM AUTHOR]

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Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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This article discusses the applications of Artificial Intelligence (AI) in pediatric physiotherapy for rare diseases. AI in pediatric physiotherapy personalizes rehabilitations to meet the unique needs of patients with rare conditions. The analysis of studies highlights the potential of AI to assist in clinical decisions, improving mobility, balance, and alleviating symptoms in diseases such as Duchenne Muscular Dystrophy, Huntington's Disease, and Isovaleric Acidemia. Physiotherapy in conjunction with AI improves the physical, mental, and social health of these patients, but more research is needed in this area. [Extracted from the article]

INTRODUCTION: Umbilical primary endometriosis is a rare condition that affects women of childbearing age. Spontaneous umbilical endometriosis presents lump in the navel, cyclic pain, discreet local bleeding during menstruation, with no history of previous surgery. The treatment is block excision of the lesion and umbilical cord with edges margin to avoid recurrence and immediate umbilical reconstruction. METHODS: We describe the surgical technique for circle excision of the umbilical endometrioma and neo-omphaloplasty in one stage. CONCLUSION: The possibility of umbilical endometriosis should be considered when the presence of nodules and umbilical bleeding, even without previous surgery. The surgical technique provides total remission of the lesion and an umbilical natural scar.

Abstract: Papular elastorrhexis is an acquired disease of elastic tissue; considered rare, its etiology and pathogenesis remain unknown. The vast majority of cases occur in women in the first or second decade of life. The disease manifests as multiple uniformly-sized, circumscribed, hypochromic and achromic papules located predominantly on the trunk and upper extremities. The lesions are generally asymptomatic and have a stable evolution over years. Its diagnosis is based on clinical and histopathological findings. The benignity of papular elastorrhexis and the subtlety of its clinical changes make the expectant treatment perfectly viable. The authors present one case in a young female patient.

Feline plasma cell pododermatitis, although considered a rare disease in routine veterinary care, is a well-recognized condition in the feline species. The disease is initially characterized by spongy and painless swelling of the pads, the most commonly affected being metacarpal and metatarsal. This swelling is usually accompanied by scaling, erythema and appearance of whitish striae, without alteration of the normal symmetry of the pads. In chronic cases, ulceration and bleeding are usually seen at the affected site, causing pain, licking, lameness and, in many cases, reluctance to move. The diagnosis is confirmed by histopathological examination, in which changes characteristic of the disease can be observed. Due to the relative lack of published information about this condition, this study aims to perform a literature review on the main aspects of feline plasma cell pododermatitis, alerting the veterinarian about its occurrence and importance of its correct diagnosis. [ABSTRACT FROM AUTHOR]

Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Cadernos de Saude Publica is the property of Escola Nacional de Saude Publica Sergio Arouca and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)