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1.
S D Med ; 73(2): 54-58, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32135052

RESUMEN

Primary lung tumors are very rare in children and constitute only 0.2 percent of all pediatric malignancies. Carcinoids are the most common primary pediatric lung tumor and account for 80 percent of all primary malignant bronchial tumors. Carcinoid tumors can be histologically categorized as typical or atypical. They are derived from neuroendocrine cells in the bronchial epithelium and are locally infiltrative. Surgical resection of endobronchial carcinoid tumors is the mainstay of treatment with a five-year survival of 95 percent. Endoscopic resection has been reported in adult patients with typical carcinoid tumors (less than 20 mm) with no extrabronchial disease. We present the first pediatric bronchial carcinoid tumor treated with endoscopic resection.


Asunto(s)
Tumor Carcinoide , Neoplasias Pulmonares , Neumonía , Adulto , Tumor Carcinoide/complicaciones , Tumor Carcinoide/diagnóstico , Niño , Humanos , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/diagnóstico , Neumonía/etiología , Síndrome
2.
Medicine (Baltimore) ; 99(9): e19247, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32118730

RESUMEN

RATIONALE: The capsular warning syndrome (CWS) is a rare and special type of transient ischemic attacks (TIAs) syndrome. The pathophysiology of CWS is very complicate, and intracranial atherosclerotic stenosis (ICAS) is rare cause. Moreover, the effective and standard therapy has not yet been established. PATIENT CONCERNS: A 47-year-old man experienced repeated and exacerbated TIAs of right hemiparesis and dysarthria. Fourteen hours after the first episode of TIAs, he developed more severe right hemiparesis and dysarthria, the National Institute of Health Stroke Scale (NIHSS) score was 12 points, and did not recover in a long time. DIAGNOSIS: The computed tomography (CT) angiography displayed high stenosis in the M1 segment of the left middle cerebral artery. The patient was diagnosed as CWS with ICAS. INTERVENTIONS: Loading dose of clopidogrel and aspirin were started but were ineffective, then we used recombinant tissue plasminogen (r-tPA) for thrombolysis therapy after repeat CT scan that showed small acute infarcts in the right putamen and no bleeding. OUTCOMES: The patient was successfully treated by r-tPA intravenous thrombolysis after loading dose of dual-anti-platelet. He recovered rapidly, and the NIHSS score was 0 point, modified Rankin Scale score was 0 point, and Barthel Index score was 100 points at 3-month follow-up. LESSONS: r-tPA combined with loading dose of dual antiplatelet appears safe and effective in carefully selected CWS patients with ICAS. The collection of similar cases and further randomized controlled trial research would be desirable.


Asunto(s)
Fibrinolíticos/uso terapéutico , Arteriosclerosis Intracraneal/tratamiento farmacológico , Ataque Isquémico Transitorio/tratamiento farmacológico , Aspirina/administración & dosificación , Aspirina/uso terapéutico , Clopidogrel/administración & dosificación , Clopidogrel/uso terapéutico , Angiografía por Tomografía Computarizada , Diagnóstico Diferencial , Fibrinolíticos/administración & dosificación , Humanos , Arteriosclerosis Intracraneal/complicaciones , Arteriosclerosis Intracraneal/diagnóstico por imagen , Ataque Isquémico Transitorio/complicaciones , Ataque Isquémico Transitorio/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Arteria Cerebral Media/diagnóstico por imagen , Síndrome , Activador de Tejido Plasminógeno/administración & dosificación , Activador de Tejido Plasminógeno/uso terapéutico , Tomografía Computarizada por Rayos X
3.
Zhongguo Gu Shang ; 33(2): 178-80, 2020 Feb 25.
Artículo en Chino | MEDLINE | ID: mdl-32133820

RESUMEN

OBJECTIVE: To establish a simple and reliable model of cervical vertigo in rats with hyperactivity of liver-yang syndrome, and to establish a simple and feasible method for evaluating the degree of vertigo in animals. METHODS: SPF male SD rats (aged 8 weeks, weighing 280 to 320 g) were randomly divided into 4 groups (6 rats in each group). The model of cervical vertigo of hyperactivity of liver yang syndrome (joint modeling group) was established by combining local injection of lauromacrogol (hardener) and receiving fuzi decoction by gavage. The joint modeling group was compared with the hardener group, the fuzi decoction group and the blank control group. The vertigo degree of rats was measured by the time of passing through a glass tube (running time) before modeling, 2 weeks and 3 weeks after the established model. RESULTS: There was no statistical difference in the running time between control group and fuzi decoction group, between joint modeling group and hardener group. The running time in the hardener group and the joint modeling group was longer than that in the control group (P< 0.05), and was even longer than that in the fuzi decoction group (P<0.01). There was significant difference in running time after modeling compared with that before modeling (P<0.05); there was no significant difference in running time between 2 and 3 weeks after modeling (P>0.05). CONCLUSION: This method can effectively establish a rat model of cervical vertigo with hyperactivity of liver-yang syndrome, and the running time can reflect the degree of vertigo in rats to a certain extent. This experiment provides a simple and feasible animal model and detection method for research of cervical vertigo in the future.


Asunto(s)
Medicamentos Herbarios Chinos , Animales , Hígado , Masculino , Ratas , Ratas Sprague-Dawley , Síndrome , Vértigo
5.
Medicine (Baltimore) ; 99(12): e19540, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32195959

RESUMEN

BACKGROUND: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a common urinary system disease in men. As part of traditional Traditional Chinese medicine, acupuncture has been widely used in clinical practice. In order to evaluate the exact effect of acupuncture on the clinical efficacy of CP/CPPS, this experiment uses randomized controlled experiments. METHODS/DESIGN: This pragmatic randomized controlled trial will recruit 166 patients who are diagnosed with CP/CPPS. Simple randomization to conventional drug treatment with a 1:1 allocation ratio will be used. Ten 30-minute acupuncture sessions will be provided to patients assigned to the Intervention group. All participants will continue to receive conventional drug treatment. The selection of outcomes will be evaluated by Health's Symptom Score Index (NIH-CPSI) score at week 4. DISCUSSION: This trial may provide evidence regarding the clinical effectiveness, safety, and cost-effectiveness of acupuncture for patients with CP/CPPS. TRIAL REGISTRATION: ClinicalTrials.gov, ChiCTR1900021132, Registered on 29 January 2019.


Asunto(s)
Terapia por Acupuntura/métodos , Antagonistas de Receptores Adrenérgicos alfa 1/uso terapéutico , Dolor Pélvico/terapia , Prostatitis/terapia , Tamsulosina/uso terapéutico , Terapia por Acupuntura/economía , Administración Oral , Antagonistas de Receptores Adrenérgicos alfa 1/administración & dosificación , China/epidemiología , Enfermedad Crónica , Terapia Combinada , Análisis Costo-Beneficio , Preparaciones de Acción Retardada , Estudios de Factibilidad , Humanos , Masculino , Dolor Pélvico/diagnóstico , Prostatitis/diagnóstico , Síndrome , Tamsulosina/administración & dosificación , Resultado del Tratamiento
6.
Medicine (Baltimore) ; 99(9): e19294, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32118742

RESUMEN

The aim of the present study was to reveal the physical symptom changes and their correlations with mental health status in deep underground miners.A total of 286 deep underground miners completed a cross-sectional questionnaire study at China Pingmei Shenma mine complex. The questionnaire included sociodemographics, self-reported physical symptoms, underground adverse environmental factors, and the Symptom Checklist-90-Revised (SCL-90-R). Five environmental parameters of 1 deep mine were also measured.Data from 266 valid questionnaires were analyzed. The 3 most frequent complaints about underground adverse conditions were moisture [62.03% (165/266)], dim light [45.86% (122/266)], and high temperature [42.11% (112/266)]. Fatigue [40.22% (107/266)], hearing loss [34.96% (93/266)], and tinnitus [31.58% (84/266)] were reported to be the three most common physical symptoms. Insomnia was reported in 204 participants (76.69%) mainly due to the difficulty of falling asleep [42.35% (84/204)] and dreams [39.70% (81/204)]. Mean scores of SCL-90-R subscales including somatization, anxiety, phobic anxiety, psychoticism, and paranoid ideation were elevated compared to Chinese norms, while there was diminished interpersonal sensitivity. Univariate analyses indicated that the 3 most common physical symptoms were associated with poorer SCL-90-R scores. With increasing depth below ground, air pressure, relative humidity, CO2 concentration and temperature rose, while total gamma radiation dose-rate decreased.The physical and mental health status of deep underground miners was poorer than the general Chinese male population. Some adverse environmental factors were identified that may have influenced health status. Measures are suggested to improve the deep underground working environment.


Asunto(s)
Salud Mental/normas , Síndrome , Lugar de Trabajo/psicología , Adulto , China , Correlación de Datos , Estudios Transversales , Humanos , Masculino , Salud Mental/estadística & datos numéricos , Persona de Mediana Edad , Mineros , Psicometría/instrumentación , Psicometría/métodos , Encuestas y Cuestionarios , Factores de Tiempo , Lugar de Trabajo/normas
7.
Psychiatr Hung ; 35(2): 126-135, 2020.
Artículo en Húngaro | MEDLINE | ID: mdl-32191218

RESUMEN

Although more and more data is now available on the background of suicidal behaviour, classical suicidal risk factors have only limited clinical predictive value because they provide little reliable information on the acute psychological processes leading to suicidal behaviour. As the lack of recognition of acute suicidal risk limits the ability to provide adequate care, intense research has begun to develop validated methods for risk analysis and risk assessment that provide more accurate predictions of suicidal behaviour. In recent years, two specific syndromes have been described that may assist in the more accurate assessment of presuicidal psychopathology and thus in the prediction of suicidal behaviour. Researchers from the United States suggest the introduction and the clinical use of two suicide-specific syndromes, the Acute Suicidal Affective Disorder (ASAD) and Suicidal Crisis Syndrome (SCS). In this paper, we present the most important features of these newly described suicide-specific syndromes, the experience with their clinical application, and the major research findings about them. Then these syndromes are compared with the classical psychological features of pre-suicidal crisis to find out whether these are really new transdiagnostic interpretations of the symptoms of suicidal behaviour or those are merely the well-known classical symptoms with new terminology.


Asunto(s)
Medición de Riesgo , Suicidio/estadística & datos numéricos , Humanos , Factores de Riesgo , Ideación Suicida , Suicidio/psicología , Síndrome
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 186-189, 2020 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-32034752

RESUMEN

OBJECTIVE: To detect chromosomal aberrations in two fetuses with multiple malformation. METHODS: The two fetuses were subjected to chromosomal microarray analysis (CMA) by using Affymetrix CytoScan 750K arrays. The results were analyzed by bioinformatic software. RESULTS: CMA analysis suggested that both fetuses harbored pathogenic copy number variations (CNVs) in the 2p15-16.1 region, which ranged from 255 kb to 257 kb and encompassed the XPO1 and USP34 genes. CONCLUSION: Deletion of the chr2 (61 659 957-61 733 075, hg19) encompassing the XPO1 and USP34 genes may underlie the multiple malformations in the two fetuses.


Asunto(s)
Deleción Cromosómica , Variaciones en el Número de Copia de ADN , Diagnóstico Prenatal , Femenino , Humanos , Análisis por Micromatrices , Embarazo , Síndrome , Proteasas Ubiquitina-Específicas
9.
Medicine (Baltimore) ; 99(7): e19138, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32049835

RESUMEN

The study assessed the pelvic dimensions by computed tomography (CT) performed for gluteal muscle contracture women, and evaluated the impact of malformations on several essential obstetric parameters.The CT pelvimetry was retrospectively performed in 25 gluteal muscle contracture women selected consecutively whether they had delivery history or not. Among the pelvic inlet plane, the mid plane and the outlet plane, 12 indicators including the transverse diameter of the pelvic inlet, the conjugate vera, the diagonal conjugate, the biischial diameter, the anteroposterior diameter of the middle pelvis, transverse outlet, the posterior sagittal diameter of outlet, the conjugate of the outlet, the anterior sagittal diameter of the outlet, the curvature and length of the sacrum, the angle of pubic arch were collected.Finally, the mean age of these women was 26.6 ±â€Š5.0 years. Most pelvises had anteroposterior elliptical appearance in inlet and size of the female pelvis. The most statistically different and most clinically significant indicator was the biischial diameter, gluteal muscle contracture women were 95.6 ±â€Š9.3 mm and the normal women from other study were 105.0 ±â€Š7.9 mm, the comparison showed a significant difference (P < .001).Generally, most gluteal muscle contracture women had features of anthropoid pelvis which were quite different from normal Chinese female. These results may serve as a basis for future studies to assess its utility and prognostic value for a safe vaginal delivery in gluteal muscle contracture women.


Asunto(s)
Nalgas/diagnóstico por imagen , Distocia/etiología , Músculo Esquelético/diagnóstico por imagen , Huesos Pélvicos/diagnóstico por imagen , Adolescente , Adulto , Nalgas/patología , Nalgas/fisiopatología , Femenino , Fibrosis , Humanos , Músculo Esquelético/fisiopatología , Huesos Pélvicos/patología , Embarazo , Síndrome , Adulto Joven
10.
N Engl J Med ; 382(9): 835-844, 2020 02 27.
Artículo en Inglés | MEDLINE | ID: mdl-32101665

RESUMEN

Mutations in VHL, which encodes von Hippel-Lindau tumor suppressor (VHL), are associated with divergent diseases. We describe a patient with marked erythrocytosis and prominent mitochondrial alterations associated with a severe germline VHL deficiency due to homozygosity for a novel synonymous mutation (c.222C→A, p.V74V). The condition is characterized by early systemic onset and differs from Chuvash polycythemia (c.598C→T) in that it is associated with a strongly reduced growth rate, persistent hypoglycemia, and limited exercise capacity. We report changes in gene expression that reprogram carbohydrate and lipid metabolism, impair muscle mitochondrial respiratory function, and uncouple oxygen consumption from ATP production. Moreover, we identified unusual intermitochondrial connecting ducts. Our findings add unexpected information on the importance of the VHL-hypoxia-inducible factor (HIF) axis to human phenotypes. (Funded by Associazione Italiana Ricerca sul Cancro and others.).


Asunto(s)
Mutación de Línea Germinal , Trastornos del Crecimiento/genética , Hipoglucemia/genética , Factor 1 Inducible por Hipoxia/deficiencia , Mitocondrias/metabolismo , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Expresión Génica , Crecimiento/genética , Humanos , Masculino , Metaboloma/genética , Metaboloma/fisiología , Síndrome , Adulto Joven
12.
Arerugi ; 69(1): 53-58, 2020.
Artículo en Japonés | MEDLINE | ID: mdl-32051370

RESUMEN

We report an adult case of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, who had a tonsillectomy at 10 years old and relapsed later. An early 40's-year-old man had been suffering from recurrent fever attack once in 1-2 months during childhood. He was accompanied by fever which was persist for several days, aphthous stomatitis, tongued tonsillitis with moss, pharyngitis, and submandibular lymphadenitis with tenderness. He was not doing well during fare-up. At the time of admission, CRP level was 12.5mg/dl and the remarkably increased expression of CD64 on neutrophils was found. Bacterial infections and collagen diseases were excluded by the several examinations. We suspected PFAPA syndrome, and treated with cimetidine, but cimetidine was not effective. At the time of flare up, administration of prednisolone was remarkably effective. We diagnosed PFAPA syndrome on the basis of clinical courses. Genetic analysis of responsible gene of familial Mediterranean fever, MEFV showed E148Q heterozygous mutation in exon 2.Since an adult case of PFAPA syndrome is likely to be made misunderstanding for infectious recurrent pharyngitis, it is important to note that we should consider PFAPA syndrome as a differential diagnosis when we meet with the adult patient of recurrent fever.


Asunto(s)
Fiebre/diagnóstico , Linfadenitis/diagnóstico , Faringitis/diagnóstico , Pirina/genética , Estomatitis Aftosa/diagnóstico , Adulto , Niño , Humanos , Masculino , Recurrencia , Síndrome
14.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(1): 127-130, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-32062955

RESUMEN

Frailty syndrome, caused by degenerative changes in the body and the body vulnerability due to a variety of chronic diseases, is associated with adverse outcomes, such as fall, disability and mortality. With the development of antiretroviral therapy, the average life span of HIV/AIDS patients is extended, the number of elderly living with HIV/AIDS has increased, resulting the increase of the incidence of frailty syndrome in this population. The incidence of frailty syndrome in the elderly is associated with HIV infection and adverse reaction of antiretroviral therapy. Early assessment and intervention of frailty syndrome in elderly HIV/AIDS patients can reduce adverse clinical events and improve the quality of life.


Asunto(s)
Anciano Frágil , Infecciones por VIH , Anciano , Envejecimiento , Antivirales/uso terapéutico , VIH , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Humanos , Calidad de Vida , Síndrome
15.
Zhonghua Wei Chang Wai Ke Za Zhi ; 23(1): 44-50, 2020 Jan 25.
Artículo en Chino | MEDLINE | ID: mdl-31958930

RESUMEN

Objective: To summarize the experience of diagnosis and treatment of superior mesenteric artery compression syndrome (SMACS) secondary to chronic constipation according to the concept of Lee's triad syndrome. Methods: The concept of Lee's triad syndrome: (1) clinical symptoms: triad of constipation, malnutrition, upper gastrointestinal obstruction (vomiting, difficulty in eating); (2) anatomical manifestations: with triple anatomy anomaly of transverse colon sagging, elevated spleen flexure, and mesentery arterial compression; (3) treatment: with triple treatment of enteral nutrition support, chest-knee posture and fecal microbiota transplantation. A descriptive cohort study was performed. According to Lee's triad syndrome criteria, clinical data of 78 patients with superior mesenteric artery compression syndrome secondary to chronic constipation in the Tenth People's Hospital of Tongji University and General Hospital of Eastern Theater Command from June 2004 to November 2018 were prospectively collected, including basic information, symptoms and signs, imaging findings, nutritional indicators, gastrointestinal quality of life index (GIQLI) and Wexner defecation score. The above parameters based on Lee's triad syndrome criteria were followed up and recorded at 1, 3, 6, 12 months after comprehensive treatment. Results: All the patients had Lee's triple symptoms of constipation, malnutrition, upper gastrointestinal obstruction (vomiting, eating difficulties), and triple anatomy anomaly of transverse colon sagging, elevated spleen curvature, and mesentery arterial compression before treatment. After triple treatment of enteral nutrition support, chest-knee posture, and fecal microbiota transplantation, 69 (88.5%) patients had a significant improvement of symptoms, and 9 patients had no significant improvement of symptoms and then eventually received surgery. The 69 cases without operation received follow-up for 12 months. All the patients eventually returned to normal eating, and upper gastrointestinal angiography and superior mesenteric artery imaging showed duodenal compression disappeared. After 1 month, the constipation-related indexes were improved. After 12 months, the number of autonomous defecation per week increased from 1.0±0.8 to 5.0±1.6 (P<0.001). The GIQLI score increased from 52.7±8.5 to 93.2±7.5 (P<0.001), and the Wexner score decreased from 19.1±2.5 to 6.2±2.1 (P<0.001). After 1 month, nutritional indexes were improved gradually. After 12 months, the BMI increased from (17.9±1.8) kg/m(2) to (21.0±1.3) kg/m(2), total protein increased from (65.2±5.7) g/L to (68.3±4.2) g/L, albumin increased from (32.1±5.1) g/L to (40.4±3.0) g/L, prealbumin increased from (163.2±53.7) mg/L to (259.1±45.6) mg/L, fibrinogen increased from (1.9±0.5) g/L to (2.4±0.5) g/L, whose differences were statistically significant (all P<0.001). Upper gastrointestinal angiography and superior mesenteric artery imaging showed duodenal compression were relieved. The angle between superior mesenteric artery and abdominal aorta increased from (17.4±3.8)° to (37.8±5.8)° (t=-22.26, P<0.001). Conclusion: When patients with SMACS secondary to chronic constipation have Lee's triple symptoms and triple anatomy anomaly, the triple combination treatment of enteral nutrition support, chest-knee posture and fecal microbiota transplantation should be applied.


Asunto(s)
Estreñimiento/complicaciones , Síndrome de la Arteria Mesentérica Superior/diagnóstico , Síndrome de la Arteria Mesentérica Superior/terapia , Enfermedad Crónica , Estudios de Cohortes , Nutrición Enteral , Trasplante de Microbiota Fecal , Humanos , Posición de Rodillas al Pecho , Arteria Mesentérica Superior/diagnóstico por imagen , Calidad de Vida , Síndrome de la Arteria Mesentérica Superior/diagnóstico por imagen , Síndrome de la Arteria Mesentérica Superior/etiología , Síndrome , Resultado del Tratamiento
17.
Expert Opin Pharmacother ; 21(3): 365-376, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31899982

RESUMEN

Introduction: Functional Dyspepsia (FD), defined as chronic symptoms originating from the gastroduodenal region in absence of readily identifiable organic disease, is one of the most common gastrointestinal disorders. FD is divided into two subgroups: Post-Prandial Distress Syndrome (PDS) or meal-related FD, characterized by postprandial fullness and early satiation, and Epigastric Pain Syndrome (EPS) or meal-unrelated FD, characterized by epigastric pain and burning.Areas covered: This review summarizes the existing and off-label therapeutic options for FD.Expert opinion: The identification of mechanisms, the Rome IV classification, the reduction of PDS/EPS overlap and pictograms for symptom identification allow a better diagnosis and a more targeted treatment choice. Acotiamide, a first-in-class prokinetic agent available only in Japan and India, is the only agent of proven efficacy for FD, but clinicians use acid-suppressive therapy, prokinetics, neuromodulators and herbal therapies for treating FD symptoms. New emerging targets are duodenal low-grade inflammation with eosinophils and duodenal or other modified luminal microbiota.


Asunto(s)
Benzamidas/uso terapéutico , Dispepsia/tratamiento farmacológico , Tiazoles/uso terapéutico , Dolor Abdominal/fisiopatología , Humanos , Periodo Posprandial , Síndrome
18.
Br J Radiol ; 93(1108): 20190556, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31977237

RESUMEN

OBJECTIVE: Anatomical analysis of the hips and pelvis was performed using MRI to evaluate morphological characteristics and associations between them. We identified correlations between the ischiofemoral space (IFS), quadratus femoris space (QFS), femoral version angle (FVA) and cervicodiaphyseal angle (CDA). METHODS: This study involved a retrospective search of a database of consecutive reports of adult hip MRI examinations carried out between January and September 2016. Patients with a medical history likely to affect pelvic and hip morphometry were excluded. RESULTS: A total of 137 adult patients were enrolled in the study (45.3% males and 54.7% females), with a mean age of 50.16 ± 13.87 years. The mean IFS was 20.88 ± 5.96 mm, mean QFS was 15.2 ± 6.18 mm, mean FVA was 12.43 ± 6.98, and mean CDA was 121.27 ± 4.6°. The IFS measurements were significantly correlated with femoral measurements (p = 0.025). These visible differences showed a slight negative relationship (-0.191), and females had a smaller distance between these anatomical structures than males (p < 0.001). Females had a significantly smaller QFS than males (12.42 ± 5.94 vs 18.73 ± 4.48 mm, p = 0.000). There was a small but significant positive relationship between CDA and FVA (p = 0.022), with a correlation coefficient of 0.195. CONCLUSION: A higher FVA was correlated with a smaller IFS. Furthermore, an increase in the CDA appeared in tandem with an increase in the FVA. ADVANCES IN KNOWLEDGE: A single conventional MRI sequence can alert us to how anatomical factors could predispose individuals to a decrease in IFS.


Asunto(s)
Imagen por Resonancia Magnética , Huesos Pélvicos/diagnóstico por imagen , Síndrome del Músculo Piriforme/diagnóstico por imagen , Ciática/diagnóstico por imagen , Tendinopatía/diagnóstico por imagen , Artralgia/etiología , Nalgas/diagnóstico por imagen , Susceptibilidad a Enfermedades , Femenino , Fémur/diagnóstico por imagen , Humanos , Isquion/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores Sexuales , Síndrome
19.
Hum Genet ; 139(4): 513-519, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31960134

RESUMEN

Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman. The phenotype is highly consistent, and comprises neurogenic arthrogryposis, microcephaly, brain malformation (absent corpus callosum), optic atrophy, limb fractures, profound global developmental delay, and early lethality. Whole-exome sequencing revealed a different homozygous truncating variant in SCYL2 in each of the two families. SCYL2 is a component of clathrin-coated vesicles, and deficiency of its mouse ortholog results in a severe neurological phenotype that largely recapitulates the phenotype observed in our patients. Our results suggest that severe neurogenic arthrogryposis with brain malformation is the human phenotypic consequence of SCYL2 loss of function mutations.


Asunto(s)
Artrogriposis , Genes Recesivos , Mutación con Pérdida de Función , Linaje , Proteínas Serina-Treonina Quinasas/genética , Adulto , Artrogriposis/diagnóstico por imagen , Artrogriposis/genética , Artrogriposis/patología , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Síndrome
20.
HNO ; 68(Suppl 1): 65-68, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31915884

RESUMEN

BACKGROUND: Immunoglobulin (Ig)G4-related disease is classified as an immune-mediated disease. The etiology of this condition has not been explained to date. Manifestations of the disease are diverse, and simultaneous involvement of multiple organs is not unusual. CASE REPORT: We report the case of a patient referred to us after multiple unsuccessful paranasal sinus operations who presented with enophthalmos and a resultant migratory keratitis with a suspected diagnosis of silent sinus syndrome. Preservation of the orbit was no longer feasible. After five years without a definitive diagnosis, we ascertained that this was a case of IgG4-related disease. DISCUSSION: IgG4-related disease represents an important element in the differential diagnosis of chronic advanced diseases of the orbit and paranasal sinuses. The diagnosis should be considered in the case of unclear disease presentations. Typical histological findings include a storiform pattern of fibrosis, vasculopathy, and tissue infiltration by IgG4 plasma cells.


Asunto(s)
Oftalmopatía de Graves , Enfermedades de los Senos Paranasales , Anciano , Diagnóstico Diferencial , Oftalmopatía de Graves/diagnóstico , Humanos , Inmunoglobulina G , Enfermedad Relacionada con Inmunoglobulina G4 , Masculino , Enfermedades de los Senos Paranasales/diagnóstico , Síndrome
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