Asunto(s)
Complicaciones del Embarazo , Humanos , Embarazo , Femenino , Síndrome , Adulto , Complicaciones del Embarazo/diagnósticoRESUMEN
The aging of the world population is now an unquestionable fact. The World Health Organization (WHO) points out in its World Report on Aging and Health published in 2015 two main causes: the increase in life expectancy and the decrease in fertility rates. The United Nations (UN) announced that Spain will become the oldest country in the world in 2050, with 44% of citizens over 60 years of age and the median age of 55.2 years. Whether this event is interpreted optimistically or as a demographic problem will depend on the quality of the years of life gained.
El envejecimiento de la población mundial es ya un hecho incuestionable. La Organización Mundial de la Salud (OMS) señala en su Informe mundial sobre el envejecimiento y la salud publicado en 2015 dos causas principales: el aumento en la esperanza de vida y el descenso de las tasas de fecundidad. La Organización de Naciones Unidas (ONU) anunció que España llegará a ser el país más envejecido del mundo en 2050, siendo el 44% de la ciudadanía mayor de 60 años y la mediana de edad de 55,2 años. Si este acontecimiento es interpretado con optimismo o como un problema demográfico dependerá de la calidad de los años de vida ganados.
Asunto(s)
Predicción , Soledad , Humanos , Anciano , Soledad/psicología , España/epidemiología , Síndrome , Esperanza de Vida/tendencias , Persona de Mediana EdadRESUMEN
Adolescents' extensive use of digital devices raises significant concerns about their visual health. This study aimed to adapt and validate the computer vision syndrome questionnaire (CVS-Q©) for adolescents aged 12-17 years. A mixed-method sequential design was used. First, a qualitative study was involved two nominal groups to assess the instrument's acceptability. A subsequent cross-sectional quantitative study with 277 randomly selected adolescents assessed reliability and validity. Participants completed the adapted CVS-Q©, an ad hoc questionnaire, and the ocular surface disease index (OSDI) questionnaire. Repeatability was tested in 54 adolescents after 7-14 days. The Rasch-Andrich rating scale model was used. Instructions and symptoms were modified to obtain the 14-item CVS-Q teen©. It showed unidimensionality, no local dependence between items, and respected monotonicity. Adequate internal consistency (person reliability = 0.69, item reliability = 0.98) and intraobserver reliability (intraclass correlation coefficient = 0.77, Cohen's Kappa = 0.49) were observed. A significant correlation (0.782, p < 0.001) between CVS-Q teen© and OSDI supported construct validity. A score of ≥ 6 points indicated computer vision syndrome (CVS) (sensitivity = 85.2%, specificity = 76.5%, and area under the curve = 0.879). In conclusion, CVS-Q teen© is a valid and reliable instrument for assessing CVS in adolescents using digital devices, applicable in research and clinical practice for early identification and recommendations for visual health.
Asunto(s)
Trastornos de la Visión , Humanos , Adolescente , Femenino , Masculino , Encuestas y Cuestionarios , Niño , Estudios Transversales , Reproducibilidad de los Resultados , Trastornos de la Visión/diagnóstico , SíndromeRESUMEN
Currently, severe combined abdominal trauma ranks third among all causes of mortality In Russia, second only to cardiovascular and oncologic diseases. In the period from 2019 to 2020 in our country, a slight decrease in traumatism is noted due to a decrease in the number of traffic accidents as the main cause of combined and multiple trauma. The number of abdominal injuries from the total number of injuries In Russian regions ranges from 1.5 to 36.5% and is accompanied by a high level of disability (25-80% in combined trauma and 5-8% in isolated trauma). Despite modern medical advances, lethality in combined trauma of abdominal organs varies from 10.7 to 69.7%, with closed abdominal trauma accounting for up to 6% of fatal outcomes. OBJECTIVE: Improving treatment outcomes in patients with closed abdominal trauma through comprehensive diagnosis of SCN and optimization of enteral therapy in patients with closed abdominal trauma. MATERIAL AND METHODS: The study included 40 patients (29 (72.5%) men and 11 (27.5%) women), who underwent examination and treatment at the State Budgetary Institution "Research Institute of SP. Im. N.V. Sklifosovsky Research Institute of St. Petersburg State Medical Center with the diagnosis: Closed abdominal trauma. The age of the patients varied from 25 to 81 years (Mean age was 49.6±13.1). To evaluate the effectiveness of intensive therapy, the patients were divided into 2 groups: the comparison group (n=26) included patients who were treated with complex conservative therapy. Patients of the main group (n=14) conservative therapy was supplemented with the use of ER to restore the functional activity of the intestine under the control of ultrasound and assessment of the degree of intra-abdominal hypertension, as well as with Intestamine to stimulate the intestinal trauma. RESULTS: In the course of the study it was found that, as a result of complex enteral therapy in the patients of the main group, starting from the 7th day of stay in the ORIT, positive dynamics was observed, consisting in a statistically significant decrease in the levels of lactate, ALT, AST, LDH, and CRP. By the 14th day there was also a statistically significant decrease in leukocyte and PCT levels. The lethality in the main group amounted to 7.2%, n=1. At the same time, in patients of the comparison group only by the 7th day there was a decrease in concentration of CRP (p=0.065), by the 10th day - ALT (<0.001) and by the 14th day there was a decrease in leukocytes level (p=0.038). Lethality in this group amounted to 23.1%, n=6. CONCLUSION: Timely initiation of pathogenetic enteral therapy contributes to faster normalization of clinical and laboratory parameters, protection of intestinal barrier function, prevention of complications associated with bacterial translocation and bacterial overgrowth syndrome, increase in immunoresistance of the organism.
Asunto(s)
Traumatismos Abdominales , Heridas no Penetrantes , Humanos , Traumatismos Abdominales/complicaciones , Traumatismos Abdominales/diagnóstico , Traumatismos Abdominales/terapia , Masculino , Femenino , Persona de Mediana Edad , Heridas no Penetrantes/complicaciones , Heridas no Penetrantes/terapia , Heridas no Penetrantes/diagnóstico , Heridas no Penetrantes/fisiopatología , Federación de Rusia/epidemiología , Traumatismo Múltiple/complicaciones , Traumatismo Múltiple/diagnóstico , Traumatismo Múltiple/terapia , Traumatismo Múltiple/mortalidad , Adulto , Nutrición Enteral/métodos , Nutrición Enteral/estadística & datos numéricos , Síndrome , Enfermedades Intestinales/diagnóstico , Enfermedades Intestinales/terapiaAsunto(s)
Adenoma , Imagen por Resonancia Magnética , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/patología , Adenoma/patología , Adenoma/diagnóstico por imagen , Femenino , Síndrome , Adulto , Persona de Mediana Edad , MasculinoRESUMEN
Menopause leads to decreased estradiol levels affecting tissue health and causing local inflammation in the genital organs and urinary tract. The rise of blood C-reactive protein (CRP) levels in menopausal women may indicate systemic inflammation associated with estradiol decline. The aim of this study was to determine the relationship between serum estradiol and CRP levels on genitourinary syndrome in menopausal women. A cross-sectional study was conducted among menopausal women who had not experienced menstruation for at least 12 consecutive months at Prof. dr. Chairuddin P. Lubis Hospital, Medan, Indonesia, in 2023. Estradiol and CRP levels were measured using enzyme-linked immunosorbent assay (ELISA) and the presence of genitourinary syndrome was assessed using the Menopause-Specific Quality of Life (MENQOL) questionnaire. The mean levels of estradiol and CRP were compared to menopausal women with and without genitourinary syndrome with the Mann-Whitney test. To assess the correlation between estradiol and CRP levels, and between their levels with the presence of genitourinary symptoms, the Spearman correlation test was used. The genitourinary syndrome was reported in 25% of the total included menopausal women. Our data indicated that the mean estradiol levels were not significantly different between menopausal women with and without genitourinary syndrome (9.13±2.47 pg/mL vs 18.96±31.23 pg/mL, p=0.881). The mean serum CRP level of menopausal women with genitourinary syndrome (9.72±6.30 mg/L) was higher than that of women without the syndrome (2.09±1.26 mg/L) with p<0.001. In addition, serum CRP level, not estradiol, was correlated with the symptom score of genitourinary syndrome. This study highlights that to identify and manage genitourinary syndrome, monitoring of CRP levels is essential in menopausal women.
Asunto(s)
Proteína C-Reactiva , Estradiol , Enfermedades Urogenitales Femeninas , Menopausia , Calidad de Vida , Humanos , Femenino , Proteína C-Reactiva/análisis , Proteína C-Reactiva/metabolismo , Estradiol/sangre , Menopausia/sangre , Estudios Transversales , Persona de Mediana Edad , Enfermedades Urogenitales Femeninas/sangre , Síndrome , Indonesia/epidemiología , Encuestas y Cuestionarios , Ensayo de Inmunoadsorción EnzimáticaRESUMEN
OBJECTIVE: Aim: The aim of the study was to determine the impact of cranioskeletal trauma (CST) on the development of endogenous intoxication syndrome in rats of different ages. PATIENTS AND METHODS: Materials and Methods: The experiments involved 147 white male Wistar rats of different age groups. The first experimental group included sexual immature rats aged 100-120 days. The second group includes sexually mature rats aged 6-8 months. The third group included old rats aged 19-23 months. In all experimental groups, CST was modelled under thiopentalonatrium anaesthesia. The control rats were only injected with thiopentalonatrium anaesthesia. The animals were withdrawn from the experiments under anaesthesia after 1, 3, 7, 14, 21 and 28 days by total bleeding from the heart. In blood serum, the content of fractions of molecules of middle mass was determined at a wavelength of 254 and 280 nm (MMM254, MMM280). RESULTS: Results: As a result application of CST in rats of different age groups, an increase in the serum content of MMM254 and MMM280 was observed with a maximum after 14 days and a subsequent decrease by 28 days. At all times of the experiment, the indicators were statistically significantly higher compared to the control groups. The degree of growth of the MMM254 fraction after 1, 7 and 14 days was statistically significantly higher in sexual immature rats, and after 21 and 28 days - in old rats. In old rats after 21 and 28 days of the post-traumatic period, the content and degree of growth of the MMM280 fraction in the blood serum were also significantly higher. CONCLUSION: Conclusions: Modelling of CST in rats of different age groups is accompanied by the development of endogenous intoxication syndrome, which is manifested by the accumulation of MMM254 and MMM280 fractions in the blood serum with a maximum after 14 days of the experiment. The content of the serum fraction of MMM254 in sexual immature rats in the dynamics of experimental CST exceeds other age groups after 1, 7 and 14 days, in old rats the content of the studied MMM fractions is significantly higher after 21-28 days.
Asunto(s)
Ratas Wistar , Animales , Ratas , Masculino , Factores de Edad , Síndrome , Traumatismos Craneocerebrales , Modelos Animales de EnfermedadRESUMEN
Self-mutilation attempts are common in psychiatric practice. One form of self-harm, genital self-mutilation (GSM), is less common but may have severe consequences. GSM acts can occur in different diagnoses such as personality disorders, substance abuse disorders, obsessive-compulsive disorders, and psychotic disorders. When GSM is performed due to psychotic symptoms, the clinical picture is called Klingsor Syndrome. GSM is often associated with severe psychosis and often accompanied by religious delusions. In our article, we discussed a case of schizophrenia with penile autoamputation due to religious delusions. A 28-year-old male patient was admitted to our hospital after penile autoamputation. After surgical interventions, the patient's follow-up continued in our clinic. The patient had auditory hallucinations, delusions of persecution, and sinfulness. His symptoms improved after antipsychotic treatment. It is important to identify the risk factors of Klingsor Syndrome, which is a rare but serious condition, and to intervene early in these patients. Keywords: Self-mutilation, Psychosis, Self-injurious Behavior.
Asunto(s)
Automutilación , Humanos , Masculino , Adulto , Automutilación/psicología , Síndrome , Trastornos Psicóticos/psicología , Deluciones/psicología , Diagnóstico Diferencial , Pene/cirugía , Esquizofrenia/complicaciones , Conducta Autodestructiva/psicologíaRESUMEN
BACKGROUND: Nonalcoholic steatohepatitis (NASH) is an important etiology of hepatocellular carcinoma (HCC), and there is no established therapy for this syndrome. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD(NET)) is an extremely rare syndrome considered to be life-threatening, with death occurring around 10 years of age. We present the oldest known autopsy case of this syndrome that developed HCC. This case provided important information on not only improving the course of this syndrome, but also understanding the natural history and therapeutic modalities of NASH and HCC. METHODS: The patient was diagnosed with ROHHAD(NET) syndrome in childhood, and liver cirrhosis due to NASH was diagnosed at age 17. HCC was detected at age 20, and embolization and irradiation were performed. At age 21, she died from accidental acute pancreatitis and subsequent liver failure and pulmonary hemorrhage. RESULTS: Rapid onset of obesity, hypoventilation, and hypothalamic disturbance appeared in childhood and was diagnosed as this syndrome. At age 17, liver cirrhosis due to NASH was diagnosed by liver biopsy, and at age 20, HCC was diagnosed by imaging. Transarterial chemoembolization and irradiation were performed, and the HCC was well controlled for a year. CONCLUSION: At age 21, she died from accidental acute pancreatitis, subsequent liver failure and pulmonary hemorrhage. Autopsy revealed that the HCC was mostly necrotized. This case was valuable not only for other ROHHAD(NET) syndrome cases, but also in improving our understanding of the natural history of NASH and HCC.
Asunto(s)
Autopsia , Carcinoma Hepatocelular , Enfermedades Hipotalámicas , Hipoventilación , Neoplasias Hepáticas , Enfermedad del Hígado Graso no Alcohólico , Humanos , Femenino , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/complicaciones , Neoplasias Hepáticas/terapia , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/complicaciones , Carcinoma Hepatocelular/terapia , Hipoventilación/etiología , Hipoventilación/complicaciones , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/patología , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/diagnóstico , Obesidad/complicaciones , Tumores Neuroendocrinos/complicaciones , Tumores Neuroendocrinos/patología , Tumores Neuroendocrinos/terapia , Resultado Fatal , Adulto Joven , Enfermedades del Sistema Nervioso Autónomo/etiología , SíndromeRESUMEN
INTRODUCTION: Aortic arch complex atheromatosis is a source of cerebral embolism. A percentage of lacunar infarct could be of embolic etiology, especially due to microemboli of the aortic arch. CASE REPORT: We present the case of a 63-year-old hypertensive man suffering from dysarthria-clumsy hand syndrome for a right hemispheric minor ischemic stroke. The patient developed sequential acute thromboembolism of the left lower and right upper limbs. Computed tomography angiography revealed an aortic arch thrombus. Vascular surgery was successfully performed. CONCLUSION: This case highlights the importance of considering embolic sources in lacunar syndromes, especially at the level of the aortic arch.
TITLE: Síndrome de disartria-mano torpe y embolias agudas secuenciales múltiples de las extremidades como forma de presentación de un trombo del cayado aórtico.Introducción. La ateromatosis del complejo del arco aórtico es una fuente de embolia cerebral. Un porcentaje de infartos lacunares podría ser de etiología embólica, especialmente debidos a microembolias del arco aórtico. Caso clínico. Presentamos el caso de un varón hipertenso de 63 años con síndrome de disartria-mano torpe por un ictus isquémico minor hemisférico derecho. El paciente desarrolló un tromboembolismo agudo secuencial de los miembros inferior izquierdo y superior derecho. La angiografía por tomografía computarizada reveló un trombo en el arco aórtico. La cirugía vascular se llevó a cabo con éxito. Conclusión. Este caso destaca la importancia de considerar las fuentes embólicas en los síndromes lacunares, especialmente en el arco aórtico.
Asunto(s)
Aorta Torácica , Disartria , Humanos , Masculino , Persona de Mediana Edad , Disartria/etiología , Aorta Torácica/diagnóstico por imagen , Mano/irrigación sanguínea , Síndrome , Enfermedad Aguda , Enfermedades de la Aorta/diagnóstico por imagen , Enfermedades de la Aorta/complicacionesRESUMEN
BACKGROUND: With life expectancy on the rise, there has been an increase in patients with concomitant degenerative hip and spine pathology, defined as hip-spine syndrome (HSS). Patients affected by HSS may require both total hip arthroplasty (THA) and lumbar spinal fusion (LSF), although there is a paucity of data regarding how the sequential timing of these procedures may influence clinical outcomes. This study aims to compare complications and spinopelvic parameters in patients with HSS who underwent either LSF first or THA first. METHODS: A systematic search of PubMed and Scopus was conducted for randomized and nonrandomized studies investigating complications and spinopelvic parameters in patients with HSS who had undergone THA and LSF. The Methodological Index for Non-Randomized Studies (MINORS) tool was utilized to assess the risk of bias in included studies. Relevant outcomes were pooled for meta-analysis. RESULTS: Eleven articles were included in this study. There was a significantly higher THA dislocation rate in patients who had undergone LSF first compared to those who had THA first (OR: 3.17, 95% CI 1.23-8.15, P = 0.02). No significant difference was found in terms of THA aseptic loosening (OR: 0.86; 95% CI 0.32-2.32, p = 0.77) and revision rate (OR: 1.18, 95% CI: 0.53-2.62) between these two groups. Individuals who received THA only showed a significantly lower risk of hip dislocation (OR: 0.14, 95% CI: 0.08-0.25, P < 0.00001) and THA revision (OR: 0.22, 95% CI: 0.14-0.36, P < 0.00001) compared to patients with a previous LSF. CONCLUSIONS: In HSS patients who underwent both LSF and THA, those who received LSF first displayed an increased risk of hip dislocation after subsequent THA. Additionally, the relative risks of dislocation and revision rate appeared significantly lower in patients who had undergone THA only when compared to THA patients with a history of previous LSF. Due to the impact of LSF on spinopelvic biomechanics, caution must be exercised when performing THA in individuals with instrumented spines. PROSPERO ID: CRD42023412447. LEVEL OF EVIDENCE: LL.
Asunto(s)
Artroplastia de Reemplazo de Cadera , Vértebras Lumbares , Fusión Vertebral , Humanos , Artroplastia de Reemplazo de Cadera/efectos adversos , Fusión Vertebral/efectos adversos , Vértebras Lumbares/cirugía , Vértebras Lumbares/diagnóstico por imagen , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/diagnóstico , Síndrome , Factores de Riesgo , Luxación de la Cadera/etiología , Luxación de la Cadera/epidemiología , Articulación de la Cadera/cirugía , Articulación de la Cadera/diagnóstico por imagenRESUMEN
Several years ago, dozens of cases were described in patients with symptoms very similar to mucopolysaccharidosis (MPS). This new disease entity was described as mucopolysaccharidosis-plus syndrome (MPSPS). The name of the disease indicates that in addition to the typical symptoms of conventional MPS, patients develop other features such as congenital heart defects and kidney and hematopoietic system disorders. The symptoms are highly advanced, and patients usually do not survive past the second year of life. MPSPS is inherited in an autosomal recessive manner and is caused by a homozygous-specific mutation in the gene encoding the VPS33A protein. To date, it has been described in 41 patients. Patients with MPSPS exhibited excessive excretion of glycosaminoglycans (GAGs) in the urine and exceptionally high levels of heparan sulfate in the plasma, but the accumulation of substrates is not caused by a decrease in the activity of any lysosomal enzymes. Here, we discuss the pathomechanisms and symptoms of MPSPS, comparing them to those of MPS. Moreover, we asked the question whether MPSPS should be classified as a type of MPS or a separate disease, as contrary to 'classical' MPS types, despite GAG accumulation, no defects in lysosomal enzymes responsible for degradation of these compounds could be detected in MPSPS. The molecular mechanism of the appearance of GAG accumulation in MPSPS is suggested on the basis of results available in the literature.
Asunto(s)
Mucopolisacaridosis , Humanos , Mucopolisacaridosis/genética , Mucopolisacaridosis/metabolismo , Glicosaminoglicanos/metabolismo , Glicosaminoglicanos/orina , Mutación , Lisosomas/metabolismo , Enfermedades Metabólicas/metabolismo , Enfermedades Metabólicas/genética , Proteínas de Transporte Vesicular/genética , Proteínas de Transporte Vesicular/metabolismo , SíndromeRESUMEN
BACKGROUND: The perioperative management of patients with chronic cough or cough hypersensitivity syndrome and its sometimes severe effects is currently under-researched and under-reported. CASE PRESENTATION: A 46-year-old female patient with a history of chronic cough and Cough Hypersensitivity Syndrome. After laparoscopic hiatoplasty and anterior fundoplication under general anesthesia, experienced a pronounced exacerbation of coughing symptoms. Despite prompt and extensive treatment involving antitussives, inhalants, anxiolytics, and sedatives, the symptoms remained uncontrollable. Within a few hours, the patient developed a respiratory alkalosis with severe and life-threatening electrolyte shift (pH 7.705, pCO2 1.72 kPa, K+ 2.1 mmol/l). Lactatemia lasted for more than 12 hours with values up to 6.6 mmol/l. Acute bleeding, pneumothorax, and an acute cardiac event were ruled out. Deep analgosedation and inhalation of high-percentage local anesthetics were necessary to manage the clinical symptoms. CONCLUSIONS: This case highlights the challenging nature of chronic cough and hypersensitivity syndrome perioperatively. A tailored anesthesiologic approach, exclusion of other provoking medical problems, and knowledge of possible management and treatment options are key.
Asunto(s)
Alcalosis Respiratoria , Tos , Complicaciones Posoperatorias , Humanos , Femenino , Persona de Mediana Edad , Desequilibrio Hidroelectrolítico , Anestesia General/métodos , Anestesia General/efectos adversos , Hiperlactatemia , Fundoplicación/efectos adversos , Síndrome , Enfermedades RespiratoriasRESUMEN
INTRODUCTION: RESLES (Reversible splenial lesion syndrome) can be observed secondary to various diseases, and intramyelinic edema may play a crucial role in the pathogenesis of SCC (Splenium of the corpus callosum). Some studies have suggested that hypoxic-ischaemic encephalopathy may constitute a risk factor for SCC lesions. However, the potential impact of high-altitude environments on SCC, especially during chronic exposure, remain obscure. METHODS: Our study included 19 patients who satisfied the diagnostic criteria of RESLES at high altitudes. Ten low-altitude patients with RESLES were included as controls. All participants received MRI (Magnetic resonance imaging) scans twice. Routine blood tests, liver, kidney and thyroid function, coagulation function, electrolytes and vitamins were detected during hospitalization and before discharge. In addition, the patients were followed up in May 2023. RESULTS: Hypoxic environments at high altitudes may increase the risk of RESLES. The two groups showed different clinical symptoms. High-altitude patients had significantly higher CRP levels than low-altitude patients. The lesion size in high-altitude patients showed a positive correlation with SaO2 levels. However, the patients at low altitudes had positive correlation trends between lesion size and several inflammatory markers (WBC, NEU and CRP). All patients had a benign prognosis that may not be affected by the use of prednisone acetate. CONCLUSIONS: Hypoxic environments at high altitudes may play a role in the aetiology of RESLES. Additionally, RESLES is a reversible disease and the administration of glucocorticoids may be dispensable for its treatment.
Asunto(s)
Altitud , Cuerpo Calloso , Imagen por Resonancia Magnética , Humanos , Masculino , Femenino , Adulto , Pronóstico , Persona de Mediana Edad , Cuerpo Calloso/patología , Cuerpo Calloso/diagnóstico por imagen , Factores de Riesgo , Hipoxia , Proteína C-Reactiva/análisis , Proteína C-Reactiva/metabolismo , Síndrome , Adulto JovenRESUMEN
INTRODUCTION: Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. OBJECTIVES: 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. METHODS: All articles in Pub Med generated using the keywords "protracted febrile myalgia" and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. RESULTS: In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. CONCLUSION: The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS.
Asunto(s)
Fiebre Mediterránea Familiar , Fiebre , Mialgia , Humanos , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/diagnóstico , Mialgia/etiología , Niño , Femenino , Fiebre/etiología , Masculino , Adolescente , Síndrome , Preescolar , Imagen por Resonancia Magnética/métodosRESUMEN
α-Gal syndrome (AGS) is an allergic reaction to galactose-α-1,3-galactose (α-gal) found in the salivary glands of ticks, mammalian meat excluding primates, and some antibody preparations, such as cetuximab. We report two cases of AGS diagnosed after ingestion of wild boar meat. Patient 1, a male in his 70s, developed anaphylactic shock about 3 h after eating wild boar meat. He was transported to our acute and critical care center in Nagasaki University Hospital because he had difficulty in moving. Patient 2, a female in her 60s, developed a skin rash about 2.5 h after ingesting wild boar meat. After visiting our department to investigate the cause of the disease, the sera of both patients were found to be positive for α-gal specific IgE antibody and were diagnosed with AGS caused by ingestion of wild boar meat. Reports of AGS diagnosed after ingestion of wild boar meat are rare in Japan. Compared with other prefectures, the consumption of wild boar meat in Nagasaki is relatively high in Japan. In the past 10 years, four cases of AGS were diagnosed at our department, half of which were caused by the ingestion of wild boar meat, the ratio is possibly higher than that in other prefectures in Japan.