RESUMEN
Primary central nervous system lymphoma (PCNSL) is a rare disease with an incidence of 0.4/per 100,000 person-years. As there is a limited number of prospective randomized trials in PCNSL, large retrospective studies on this rare disease may yield information that might prove useful for the future design of randomized clinical trials. We retrospectively analyzed the data of 222 newly diagnosed PCNSL patients treated in five referral centers in Israel between 2001 and 2020. During this period, combination therapy became the treatment of choice, rituximab has been added to the induction therapy, and consolidation with irradiation was largely laid off and was mostly replaced by high-dose chemotherapy with or without autologous stem cell transplantation (HDC-ASCT). Patients older than 60 comprised 67.5% of the study population. First-line treatment included high-dose methotrexate (HD-MTX) in 94% of patients with a median MTX dose of 3.5 g/m2 (range 1.14-6 g/m2 ) and a median cycle number of 5 (range 1-16). Rituximab was given to 136 patients (61%) and consolidation treatment to 124 patients (58%). Patients treated after 2012 received significantly more treatment with HD-MTX and rituximab, more consolidation treatments, and autologous stem cell transplantation. The overall response rate was 85% and the complete response (CR)/unconfirmed CR rate was 62.1%. After a median follow-up of 24 months, the median progression-free survival (PFS) and overall survival (OS) were 21.9 and 43.5 months respectively with a significant improvement since 2012 (PFS: 12.5 vs. 34.2 p = 0.006 and OS: 19.9 vs. 77.3 p = 0.0003). A multivariate analysis found that the most important factors related to OS were obtaining a CR followed by rituximab treatment and Eastern Cooperative Oncology Group performance status. The observed improvement in outcomes may be due to multiple components such as an intention to treat all patients regardless of age with HD-MTX-based combination chemotherapy, treatment in dedicated centers, and more aggressive consolidation with the introduction of HDC-ASCT.
Asunto(s)
Neoplasias del Sistema Nervioso Central , Trasplante de Células Madre Hematopoyéticas , Linfoma , Humanos , Estudios Retrospectivos , Rituximab/uso terapéutico , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Estudios Prospectivos , Enfermedades Raras/tratamiento farmacológico , Enfermedades Raras/etiología , Neoplasias del Sistema Nervioso Central/tratamiento farmacológico , Trasplante Autólogo , Metotrexato , Linfoma/patología , Sistema Nervioso Central/patologíaRESUMEN
As the field of medicine is striving forward heralded by a new era of next-generation sequencing (NGS) and integrated technologies such as bioprinting and biological material development, the utility of rare monogenetic vascular disease modeling in this landscape is starting to emerge. With their genetic simplicity and broader applicability, these patient-specific models are at the forefront of modern personalized medicine. As a collective, rare diseases are a significant burden on global healthcare systems, and rare vascular diseases make up a significant proportion of this. High costs are due to a lengthy diagnostic process, affecting all ages from infants to adults, as well as the severity and chronic nature of the disease. Their complex nature requires sophisticated disease models and integrated approaches involving multidisciplinary teams. Here, we review these emerging vascular disease models, how they contribute to our understanding of the pathomechanisms in rare vascular diseases and provide useful platforms for therapeutic discovery.
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Enfermedad Injerto contra Huésped , Enfermedades Vasculares , Adulto , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Medicina de Precisión , Enfermedades Raras/etiología , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/etiologíaRESUMEN
Tension pneumoperitoneum is a life-threatening complication of pneumatic reduction for intussusception if not immediately recognized and treated. We describe a 3-month-old woman who presented with intussusception, underwent attempted pneumatic reduction, and subsequently developed tension pneumoperitoneum with associated hemodynamic instability requiring emergent laparotomy. This is a known, rare complication of pneumatic reduction which highlights the need to have a high index of suspicion for early surgical management to obtain a positive outcome.
Asunto(s)
Insuflación/efectos adversos , Perforación Intestinal/complicaciones , Intususcepción/terapia , Neumoperitoneo/etiología , Tratamiento de Urgencia/métodos , Femenino , Humanos , Lactante , Perforación Intestinal/cirugía , Intususcepción/diagnóstico por imagen , Laparotomía , Enfermedades Raras/etiología , UltrasonografíaRESUMEN
The avulsion of the impacted lower third molar is one of the most common procedures in oral surgery. Even though it is characterized by possible complications due to the lesion of lingual and inferior alveolar nerves, the intra-oral surgical approach represents the first-choice strategy when planning surgery. However, in case of ectopic tooth in the mandibular basal bone, it is appropriate to consider an extra-oral transcutaneous surgical approach. The ectopia of the inferior wisdom tooth represents a very rare clinical condition and sometimes it is even unknown by patients and dentists: further evidence of this fact is represented by the paucity of paper related to the topic that can be found in the international scientific literature. The experience of the Department of Maxillofacial Surgery of San Gerardo Hospital in Monza (Italy) in management and treatment of ectopic impacted lower third molar is exposed through the presentation of three cases of ectopic third molar. Two out of three patients, aware of the risks related to the surgical procedure, refused the treatment proposed. One patient underwent surgical avulsion of the wisdom tooth through extra-oral transcervical approach. No early or late complications have been observed. Extra-oral surgical approach for ectopic lower third molar should be considered for selected cases. Given the rarity of the clinical condition and the procedure-related risks, accurate preoperative information has to be provided to the patient by physician and the procedure should only be performed by expert and competent surgeons.
Asunto(s)
Tercer Molar , Diente Impactado , Humanos , Tercer Molar/diagnóstico por imagen , Tercer Molar/cirugía , Extracción Dental/efectos adversos , Diente Impactado/diagnóstico por imagen , Diente Impactado/cirugía , Diente Impactado/etiología , Lengua , Mandíbula/diagnóstico por imagen , Mandíbula/cirugía , Enfermedades Raras/etiologíaRESUMEN
Hypophysitis is defined as inflammation of the pituitary gland that is primary or secondary to a local or systemic process. Differential diagnosis is broad (including primary tumors, metastases, and lympho-proliferative diseases) and multifaceted. Patients with hypophysitis typically present with headaches, some degree of anterior and/or posterior pituitary dysfunction, and enlargement of pituitary gland and/or stalk, as determined by imaging. Most hypophysitis causes are autoimmune, but other etiologies include inflammation secondary to sellar tumors or cysts, systemic diseases, and infection or drug-induced causes. Novel pathologies such as immunoglobulin G4-related hypophysitis, immunotherapy-induced hypophysitis, and paraneoplastic pituitary-directed autoimmunity are also included in a growing spectrum of this rare pituitary disease. Typical magnetic resonance imaging reveals stalk thickening and homogenous enlargement of the pituitary gland; however, imaging is not always specific. Diagnosis can be challenging, and ultimately, only a pituitary biopsy can confirm hypophysitis type and rule out other etiologies. A presumptive diagnosis can be made often without biopsy. Detailed history and clinical examination are essential, notably for signs of underlying etiology with systemic manifestations. Hormone replacement and, in selected cases, careful observation is advised with imaging follow-up. High-dose glucocorticoids are initiated mainly to help reduce mass effect. A response may be observed in all auto-immune etiologies, as well as in lymphoproliferative diseases, and, as such, should not be used for differential diagnosis. Surgery may be necessary in some cases to relieve mass effect and allow a definite diagnosis. Immunosuppressive therapy and radiation are sometimes also necessary in resistant cases.
Asunto(s)
Hipofisitis/diagnóstico , Hipófisis/patología , Enfermedades Raras/diagnóstico , Adulto , Anciano , Autoinmunidad , Diagnóstico Diferencial , Femenino , Humanos , Hipofisitis/etiología , Hipofisitis/patología , Hipofisitis/terapia , Imagen por Resonancia Magnética , Masculino , Hipófisis/diagnóstico por imagen , Hipófisis/efectos de los fármacos , Hipófisis/inmunología , Enfermedades Raras/etiología , Enfermedades Raras/patología , Enfermedades Raras/terapiaRESUMEN
INTRODUCTION: Bariatric surgery has become one of the most rapidly growing subspecialty performed globally, and it has been well reported to be associated with low morbidity and mortality rates. Splenic abscess is a rare but serious complication of bariatric surgery that has not been previously systematically reviewed in the literature. METHODS: The authors have performed a systematic review of the evidence that has looked into the pathophysiology, clinical presentation, and the management options of splenic abscess complicating bariatric surgery. RESULTS: This systematic review has been unsurprisingly based on level-IV evidence due to the rarity of the explored condition. The final analysis included 27 relevant reported cases. The mean age was 38 years and the mean of the time interval between the initial operation and developing splenic abscess was 72 days, with the male to female ratio being 1:1.6. Laparoscopic sleeve gastrectomy was the initial operation in 85.2% of the patients. Nearly half of the patients did not have an objective evidence of local or systemic sepsis that could explain the abscess formation. Nonsurgical management was attempted in 14 patients, with 34% success rate only. Splenectomy was needed in 41.7% of the patients. No mortality was reported. CONCLUSIONS: Splenic abscess is a rare and rather late but serious complication of bariatric surgery that could result in splenectomy in a relatively young group of patients. It is more commonly reported following laparoscopic sleeve gastrectomy. Early diagnosis with intervention in a timely manner is crucial to avoid life threatening complications.
Asunto(s)
Absceso/etiología , Cirugía Bariátrica/efectos adversos , Complicaciones Posoperatorias/etiología , Enfermedades Raras/etiología , Enfermedades del Bazo/etiología , Absceso/terapia , Adulto , Anciano , Femenino , Gastrectomía/efectos adversos , Gastrectomía/métodos , Humanos , Laparoscopía , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/terapia , Enfermedades Raras/terapia , Esplenectomía/estadística & datos numéricos , Enfermedades del Bazo/terapia , Adulto JovenAsunto(s)
Enfermedades Musculares , Enfermedades Desatendidas , Enfermedades Neuromusculares , Enfermedades Raras , Francia , Humanos , Investigación Interdisciplinaria , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/etiología , Enfermedades Desatendidas/diagnóstico , Enfermedades Desatendidas/etiología , Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/etiología , Enfermedades Neuromusculares/genética , Enfermedades Raras/diagnóstico , Enfermedades Raras/etiología , Sociedades MédicasRESUMEN
BACKGROUND: Rare diseases (RDs) encompass many difficult-to-treat conditions with different characteristics often associated with end-stage renal disease (ESRD). However, data about transplant outcomes in adult patients are still lacking and limited to case reports/case series without differentiation between immunological/non-immunological RDs. METHODS: Retrospective analysis among all adult kidney transplanted patients (KTs) with RDs (RDsKT group) performed in our high-volume transplantation center between 2005 and 2016. RDs were classified according to the Orphanet code system differentiating between immunological and non-immunological diseases, also comparing clinical outcomes and temporal trends to a control population without RDs (nRDsKT). RESULTS: Among 1381 KTs, 350 patients (25.3%) were affected by RDs (RDsKTs). During a f/up > 5 years [median 7.9 years (4.8-11.1)], kidney function and graft/patient survival did not differ from nRDsKTs. Considering all post-transplant complications, RDsKTs (including, by definition, patients with primary glomerulopathy except on IgA nephropathy) have more recurrent and de-novo glomerulonephritis (14.6% vs. 9.6% in nRDsKTs; p = 0.05), similar rates of de-novo cancers, post-transplant diabetes, dysmetabolism, hematologic disorders, urologic/vascular problems, and lower infectious episodes than nRDsKTs (63.7% vs 72.7%; p = 0.013). Additional stratification for immunological and non-immunological RDsKTs or transplantation periods (before/after 2010) showed no differences or temporal trends between groups. CONCLUSIONS: Kidney transplant centers are deeply involved in RDs management. Despite their high-complex profile, both immunological and non-immunological RDsKTs experienced favorable patients' and graft survival.
Asunto(s)
Enfermedades del Sistema Inmune/epidemiología , Fallo Renal Crónico/cirugía , Trasplante de Riñón , Enfermedades Raras/epidemiología , Adulto , Femenino , Estudios de Seguimiento , Supervivencia de Injerto , Humanos , Enfermedades del Sistema Inmune/etiología , Inmunosupresores/efectos adversos , Inmunosupresores/uso terapéutico , Italia/epidemiología , Estimación de Kaplan-Meier , Fallo Renal Crónico/complicaciones , Trasplante de Riñón/efectos adversos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias , Prevalencia , Enfermedades Raras/etiología , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Introducción: El síndrome de Lowe o síndrome oculocerebrorenal es un trastorno multisistémico. Es una enfermedad rara e infrecuente. Objetivo: Exponer un caso clínico típico, con fracaso renal controlado sin método dialítico y que de manera tardía en su adolescencia se diagnostica con síndrome de Lennox-Gastaut. Presentación caso: Adolescente masculino de 18 años nacido de un embarazo sin riesgo y parto por cesárea, macrofeto. Desde el nacimiento, con diagnóstico perinatal de catarata congénita y evolutivamente glaucoma bilateral con tratamiento conservador. A partir del primer año de vida padece de acidosis tubular y síndrome de Fanconi con evolución a una enfermedad renal crónica. Relacionado todo con retraso del desarrollo psicomotor, discapacidad intelectual, estereotipias, síntomas obsesivos compulsivos y depresión. De manera tardía, a los 10 años tuvo inicio de crisis epilépticas de varios tipos con predominio de las tónicas durante el sueño y en vigilia, frecuentes, con electroencefalograma característico de síndrome Lennox-Gastaut. Tuvo atención interdisciplinaria y evolución clínica estable hasta la edad adulta cumplida. El estudio molecular de ADN materno y del niño confirmaron la mutación c2224_2226 del GTA (exón 19), delección de valina en la posición 742 del cromosoma X del OCRL 1, que ratifica el síndrome de Lowe. Conclusiones: El Síndrome de Lowe, es un trastorno multisistémico, ligado al cromosoma X y frecuente en varones. Clínicamente se caracteriza por alteraciones oftalmológicas, renales y neurológicas(AU)
Introduction: Lowe syndrome or oculocerebrorenal syndrome is a multisystemic disorder. It's a rare and uncommon disease. Objective: Show a typical clinical case, with controlled renal failure without dialytic method and that late in the adolescence is diagnosed with Lennox-Gastaut syndrome. Case presentation: 18-year-old male adolescent born of a risk-free pregnancy and cesarean delivery, with macrosomia. From birth, he had a perinatal diagnosis of congenital cataract and evolutionarily bilateral glaucoma with conservative treatment. From the first year of life he suffers from tubular acidosis and Fanconi syndrome with an evolution to chronic kidney disease. All of these were related to delayed psychomotor development, intellectual disability, stereotypies, obsessive-compulsive symptoms and depression. Lately, at 10 years old, epileptic seizures of various types with predominance of tonic ones during sleep and wakefulness began; they were frequent, with characteristic electroencephalogram of Lennox-Gastaut syndrome. He had interdisciplinary care and stable clinical evolution into adulthood. The molecular study of the mother and child DNA confirmed the c2224_2226 mutation of GTA (exon 19), valine deletion at position 742 of the X chromosome of OCRL 1, which ratifies Lowe syndrome. Conclusion: Lowe Syndrome is a multisystemic disorder, linked to the X chromosome and common in males. Clinically, it is characterized by ophthalmological, renal and neurological alterations(AU)
Asunto(s)
Humanos , Masculino , Adolescente , Catarata/terapia , Enfermedades Raras/etiología , Insuficiencia Renal Crónica/terapia , Síndrome de Lennox-Gastaut/diagnóstico , Síndrome Oculocerebrorrenal/diagnóstico , Electroencefalografía/métodosRESUMEN
Necrobiosis lipoidica (NL) is a rare, granulomatous disease considered to be associated with diabetes. It is frequently seen in female and middle-aged patients and is rarely observed in children. We present a 14-year-old boy with poorly controlled type 1 diabetes who developed biopsy-proven NL. He had improvement, but not resolution of the plaque with improved glycemic control. Pediatric NL may be associated with diabetes and could be related to poor glycemic control. However, further investigation is warranted in this young population.
Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Necrobiosis Lipoidea/etiología , Adolescente , Biopsia , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Humanos , Masculino , Necrobiosis Lipoidea/tratamiento farmacológico , Necrobiosis Lipoidea/patología , Enfermedades Raras/tratamiento farmacológico , Enfermedades Raras/etiología , Enfermedades Raras/patología , Piel/patologíaRESUMEN
ABSTRACT: While buttock pain is a common complaint in sports medicine, deep gluteal syndrome (DGS) is a rare entity. DGS has been proposed as a unifying term referring to symptoms attributed to the various pain generators located in this region. While not all-inclusive, the diagnosis of DGS allows for focus on pathology of regionally associated muscles, tendons, and nerves in the clinical evaluation and management of posterior hip and buttock complaints. An understanding of the anatomic structures and their kinematic and topographic relationships in the deep gluteal space is pivotal in making accurate diagnoses and providing effective treatment. Because presenting clinical features may be unrevealing while imaging studies and diagnostic procedures lack supportive evidence, precise physical examination is essential in obtaining accurate diagnoses. Management of DGS involves focused rehabilitation with consideration of still clinically unproven adjunctive therapies, image-guided injections, and surgical intervention in refractory cases.
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Síndrome del Músculo Piriforme/diagnóstico , Síndrome del Músculo Piriforme/terapia , Enfermedades Raras/diagnóstico , Ciática/diagnóstico , Ciática/terapia , Fenómenos Biomecánicos , Nalgas/anatomía & histología , Nalgas/diagnóstico por imagen , Descompresión Quirúrgica , Diagnóstico Diferencial , Humanos , Síndromes de Compresión Nerviosa/diagnóstico , Síndromes de Compresión Nerviosa/cirugía , Huesos Pélvicos/anatomía & histología , Huesos Pélvicos/diagnóstico por imagen , Examen Físico/métodos , Síndrome del Músculo Piriforme/etiología , Enfermedades Raras/etiología , Enfermedades Raras/rehabilitación , Ciática/etiología , SíndromeRESUMEN
A dor abdominal no paciente com lúpus eritematoso sistêmico tem amplo espectro clínico, variando desde condições inespecí- ficas, como diarreia e vômitos, até eventos de importante morbi- mortalidade, como o abdome agudo inflamatório e/ou perfura- tivo. A seguir, descreve-se um caso de paciente do sexo feminino, de 23 anos, internada por dor abdominal associada a vômitos e à diarreia crônica e progressiva. Foi diagnosticada com lúpus eritematoso sistêmico há 2 anos. Durante a internação, evoluiu com quadro de abdome agudo, e foi realizada tomografia compu- tadorizada de abdome, revelando importante edema de parede intestinal difuso. Isso, somado a alterações clínico-laboratoriais, permitiu o diagnóstico de enterite lúpica. Foi realizado tratamen- to conservador, com corticoterapia e terapia de suporte com correção de distúrbios eletrolíticos severos, sendo iniciado ciclo- fosfamida, com resolução dos sintomas gastrintestinais.
Abdominal pain in patients with systemic lupus erythematosus has a broad clinical spectrum, ranging from nonspecific symp- toms, such as diarrhea and vomiting, to events of significant morbidity and mortality, such as acute inflammatory and/or per- forating abdomen. This article describes a case of a 23-year-old female patient hospitalized for abdominal pain, associated with vomiting and progressive chronic diarrhea. She was diagnosed with systemic lupus erythematosus 2 years ago. During hospita- lization, the patient progressed with acute abdomen, and an ab- dominal computed tomography scan was performed, revealing major diffuse intestinal wall edema. This, added to clinical and laboratories alterations, allowed the diagnosis of lupus enteritis. A conservative treatment with corticotherapy and supportive therapy with correction of severe electrolyte disturbances were initiated, as well as the prescription of cyclophosphamide, with resolution of gastrointestinal symptoms.
Asunto(s)
Humanos , Femenino , Adulto Joven , Enteritis/etiología , Lupus Eritematoso Sistémico/complicaciones , Vómitos/etiología , Desequilibrio Hidroelectrolítico/terapia , Tomografía Computarizada por Rayos X , Dolor Abdominal/etiología , Ultrasonografía , Corticoesteroides/uso terapéutico , Enfermedades Raras/etiología , Diarrea/etiología , Enteritis/diagnóstico , Enteritis/tratamiento farmacológico , Administración Intravenosa , Combinación Piperacilina y Tazobactam/uso terapéutico , Antiinflamatorios/uso terapéutico , Antibacterianos/uso terapéuticoRESUMEN
Rare diseases frequently attack and weaken the immune system, increasing the patient's vulnerability to develop severe conditions after viral infections, such as COVID-19. Many patients with rare diseases also suffer from mental retardation and disability. These rare disease phenotypes do not emerge in older people who are susceptible to COVID-19 infection, but present at a very young age or at birth. These factors must be taken in consideration when caring for this vulnerable patient population during a pandemic, such as COVID-19. Patients with a rare disease have to take their regular medication continuously to control their condition and frequently, the medications, directly or indirectly, affect their immune system. It is important for this patient population, if infected with COVID-19 or another severe form of infection, to adjust the treatment protocol by specialists, in consultation with their own medical team. Special awareness and educational programs, understandable for mentally retarded patients, must be developed to educate them about social distancing, curfew, sanitization, and sensitization to the disease and quarantine. The COVID-19 pandemic highlighted the importance to reconsider the care required by patients with a rare disease during a pandemic or disaster, a program that should be adopted by the World Health Organization and governmental institutions for consideration.
Asunto(s)
COVID-19/etiología , Enfermedades Raras/terapia , COVID-19/epidemiología , COVID-19/terapia , Vacunas contra la COVID-19/farmacología , Enfermedades Cardiovasculares/etiología , Síndrome de Liberación de Citoquinas/etiología , Humanos , Atención al Paciente/psicología , Enfermedades Raras/etiología , Tratamiento Farmacológico de COVID-19RESUMEN
In rare instances, severe respiratory syncytial virus (RSV) infections of the lower respiratory tract can cause life-threatening extrapulmonary complications. In this report, we describe 4 previously healthy, term and late-preterm infants admitted to the PICU with respiratory failure due to RSV bronchiolitis who developed necrotizing enterocolitis shortly after admission. All infants exhibited progressive abdominal distention, had typical radiographic findings, and developed simple or complex ascites. In addition to being managed with broad-spectrum antibiotics and bowel rest, 1 infant was treated with colon resection and ileostomy, 2 had peritoneal drainage procedures for ascites, and one of those later developed small bowel strictures treated with delayed resection and anastomosis. Three were discharged from the hospital without further complications; 1 died of septic shock. In this case series, we describe development of necrotizing enterocolitis in otherwise healthy neonates with severe RSV disease in the absence of traditional risk factors. We hypothesize that a dysregulated proinflammatory response associated with severe RSV disease may alter intestinal blood flow and compromise barriers to bacterial translocation. Enteral feeding intolerance, septic ileus, and/or complex ascites may represent important clinical corollaries in these patients.
Asunto(s)
Bronquiolitis Viral/complicaciones , Enterocolitis Necrotizante/etiología , Enfermedades Raras/etiología , Infecciones por Virus Sincitial Respiratorio/complicaciones , Ascitis/etiología , Enterocolitis Necrotizante/diagnóstico , Enterocolitis Necrotizante/terapia , Resultado Fatal , Femenino , Humanos , Lactante , Recién Nacido , MasculinoRESUMEN
Introducción: Los feocromocitomas son tumores que se desarrollan a partir de las células cromafines localizadas en la médula suprarrenal, ganglios simpáticos y parasimpáticos. La distinción entre tumores benignos y malignos es compleja, pues no existen marcadores que puedan discriminar esta diferencia con alta sensibilidad y especificidad. Objetivo: Presentar tres casos clínicos de feocromocitoma maligno, diagnosticados y/o tratados en la sala de hospitalización de adultos del INEN. Método: Se revisaron las historias clínicas y se resumieron los datos. Presentación de los casos: Los 3 pacientes eran del sexo masculino, con edades entre 41 y 51 años al diagnóstico del tumor primario. De ellos, dos tenían una hipertensión arterial controlada y el tercero se comenzó a estudiar por crisis paroxísticas de hipertensión; dos tenían antecedentes de diabetes mellitus y no se demostraron evidencias en ningún caso de lesiones en órganos diana por la hipertensión. En los tres pacientes el tumor se localizó en la suprarrenal derecha. Solo en uno de los casos, la etiología maligna fue informada en el estudio anatomopatológico. En los otros dos pacientes, la malignidad se diagnosticó a punto de partida de lesiones metastásicas, años después de la adrenalectomía, en un caso de cadera y en el otro, de pulmón. Conclusiones: El feocromocitoma maligno es una enfermedad infrecuente de la edad mediana y el diagnóstico de su naturaleza es complejo. Se debe sospechar la aparición de enfermedad metastásica ante la reaparición de los síntomas que motivaron el estudio inicial en el paciente, incluso, años después de la adrenalectomía(AU)
Introduction: Pheochromocytomas are tumors developed from chromaffin cells located in the suprarenal medulla, as well as in sympathetic and parasympathetic ganglia. The distinction between benign and malignant tumors is complex, since there are no markers to discriminate this difference with high sensitivity and specificity. Objective: To present three clinical cases of malignant pheochromocytoma, diagnosed and/or treated in the adult hospitalization ward at the National Institute of Endocrinology. Method: The medical records were reviewed and the data was summarized. Case presentation: The three patients were male and aged between 41 and 51 years at the diagnosis of the primary tumor. Of them, two had controlled arterial hypertension and the third began to be studied for paroxysmal hypertension crises; two had a history of diabetes mellitus and no evidence of target-organ lesions due to hypertension was shown in any case. In the three patients, the tumor was located in the right suprarenal gland. Only in one of the cases, malignant etiology was reported in the pathological study. In the other two patients, the malignancy was diagnosed at the starting point of metastatic lesions, years after adrenalectomy: two respective hip and lung cases. Conclusions: Malignant pheochromocytoma is a rare disease that appears at middle age and whose diagnosis is complex, due to its etiological nature. The appearance of metastatic disease should be suspected, given the reappearance of the symptoms that motivated the initial study in the patient, even years after adrenalectomy(AU)
Asunto(s)
Humanos , Masculino , Adulto , Persona de Mediana Edad , Feocromocitoma/diagnóstico , Sensibilidad y Especificidad , Neoplasias de las Glándulas Suprarrenales/epidemiología , Adrenalectomía/métodos , Enfermedades Raras/etiología , Metástasis de la Neoplasia/fisiopatologíaRESUMEN
Appendix-associated hernias are extremely rare. They have been described sporadically in the literature, mostly as inguinal hernias. Appendix-associated incisional hernias are even more unusual. High clinical awareness is needed as complications can arise if misdiagnosis or delay occurs. We present an 80-year-old man with acute appendicitis in an incisional hernia. After successful surgery, the patient made a full recovery.
Asunto(s)
Apendicectomía , Apendicitis/diagnóstico , Herniorrafia/efectos adversos , Hernia Incisional/diagnóstico , Enfermedades Raras/diagnóstico , Dolor Abdominal/etiología , Pared Abdominal/cirugía , Anciano de 80 o más Años , Apendicitis/etiología , Apendicitis/cirugía , Apéndice/diagnóstico por imagen , Apéndice/cirugía , Hernia Inguinal/cirugía , Humanos , Hernia Incisional/etiología , Hernia Incisional/cirugía , Masculino , Náusea/etiología , Enfermedades Raras/etiología , Enfermedades Raras/cirugía , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Vómitos/etiologíaRESUMEN
Uncertainty analysis is the process of identifying limitations in knowledge and evaluating their implications for scientific conclusions. Uncertainty analysis is a stable component of risk assessment and is increasingly used in decision making on complex health issues. Uncertainties should be identified in a structured way and prioritized according to their likely impact on the outcome of scientific conclusions. Uncertainty is inherent to the rare diseases (RD) area, where research and healthcare have to cope with knowledge gaps due to the rarity of the conditions; yet a systematic approach toward uncertainties is not usually undertaken. The uncertainty issue is particularly relevant to multifactorial RD, whose etiopathogenesis involves environmental factors and genetic predisposition. Three case studies are presented: the newly recognized acute multisystem inflammatory syndrome in children and adolescents associated with SARS-CoV-2 infection; the assessment of risk factors for neural tube defects; and the genotype-phenotype correlation in familial Mediterranean fever. Each case study proposes the initial identification of the main epistemic and sampling uncertainties and their impacts. Uncertainty analysis in RD may present aspects similar to those encountered when conducting risk assessment in data-poor scenarios; therefore, approaches such as expert knowledge elicitation may be considered. The RD community has a main strength in managing uncertainty, as it proactively develops stakeholder involvement, data sharing and open science. The open science approaches can be profitably integrated by structured uncertainty analysis, especially when dealing with multifactorial RD involving environmental and genetic risk factors.