RESUMEN
INTRODUCTION: The main objective of this work was to investigate a possible link between lung density, small pulmonary vessels, and pulmonary hypertension (PH) in patients with progressive fibrosing interstitial lung disease (PF-ILD). METHODS: The study focused on patients with PF-ILD, all of whom underwent right cardiac catheterization and chest computed tomography prior to lung transplantation. Computed tomography scans were analyzed quantitatively for density and pulmonary vascularity. The relationship between computed tomography features and PH was investigated. RESULTS: Fifty-one patients with usual interstitial pneumonia (UIP) damage on lung explant were included. mPAP was positively correlated with lung mass (r=0.36, P=0.03) and lung volume (r=0.43, P=0.007). Patients with severe PH had more voxels lower than -856 Hounsfield Units (HU) (+16%, P=0.02), fewer voxels greater than -700 HU (-20%, P=0.03), and a higher lung volume (+1.57L, P=0.007) compared to patients without PH. No correlation was found between vascularization and HTP. CONCLUSIONS: Patients with PF-ILD and severe PH have lower lung density than patients with moderate or without PH.
Asunto(s)
Hipertensión Pulmonar , Fibrosis Pulmonar Idiopática , Enfermedades Pulmonares Intersticiales , Progresión de la Enfermedad , Humanos , Hipertensión Pulmonar/diagnóstico , Hipertensión Pulmonar/diagnóstico por imagen , Fibrosis Pulmonar Idiopática/diagnóstico , Fibrosis Pulmonar Idiopática/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/diagnóstico por imagen , Pronóstico , Tomografía Computarizada por Rayos X/métodosRESUMEN
Acid sphingomyelinase deficiency (ASMD), also called Niemann-Pick disease, is a storage disorder with pulmonary involvement but few respiratory symptoms in adults. However, the disease may evolve towards clinically relevant respiratory symptoms with referral to the pulmonologist for management and care. Based on two case reports illustrating respiratory impairment, the aim of this work was to review clinical features, diagnosis, respiratory prognostic and therapeutics for the pulmonologist. Overall, storage disorder should be suspected in the presence of hepatosplenomegaly and interstitial lung disease. Concomitant thrombopenia or hyperlipidemia should also draw attention. Following recent consensus guidelines, diagnosis is based on enzyme assay for ASM activity in blood, with subsequent gene sequencing once the biochemical diagnosis has been confirmed. Disease is slowly progressive and the main causes of death are respiratory and liver failure. Presence of emphysema lesions or worsening of respiratory symptoms should call for the intensification of treatment. Though enzyme replacement therapy is a promising way of development, lung transplantation might be considered for these patients in the absence of contraindication.
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Enfermedades de Niemann-Pick/complicaciones , Enfermedades de Niemann-Pick/terapia , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/terapia , Adulto , Terapia de Reemplazo Enzimático , Humanos , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/etiología , Enfermedades Pulmonares Intersticiales/terapia , Trasplante de Pulmón , Masculino , Persona de Mediana Edad , Enfermedades de Niemann-Pick/diagnóstico , Guías de Práctica Clínica como Asunto , Neumólogos , Derivación y Consulta , Insuficiencia Respiratoria/diagnósticoRESUMEN
Thoracic ultrasound (TUS) is increasingly studied in neonatal respiratory distress but chest x-ray (CXR) remains the first-line exam. We aimed to evaluate its diagnostic performance for the investigation of unselected causes of neonatal respiratory distress in daily practice. We conducted a descriptive, prospective, and single-center diagnostic accuracy study in a tertiary hospital, including term and preterm newborns who needed a CXR because of respiratory conditions occurring at birth or during the first 24h of life. TUS was compared to the reference diagnosis, which was the association between the CXR results, the clinical initial context, and the patient's outcome. Fifty-two newborns were included and 104 hemi-thorax ultrasounds were analyzed. Sensitivity, specificity, positive and negative predictive values (PPV, NPV), diagnosis accuracy, as well as the positive and negative likelihood ratio of TUSs were 100% for respiratory distress syndrome (RDS), transient tachypnea of newborn (TTN), pneumomediastinum, meconium aspiration syndrome, and absence of pulmonary disease. TUS also showed 100% sensitivity and NPV for pneumothorax, but specificity was 97% and PPV was 50%. Kappa concordance between TUS and either CXR alone or the radiological/clinical gold standard was 0.79 and 0.95, respectively. CONCLUSION: TUS at the newborn's bedside is efficient for investigating the main neonatal respiratory diseases, especially for the confirmation of RDS or TTN and for the exclusion of differential diagnosis or complications.
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Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Masculino , Estudios Prospectivos , Radiografía Torácica , Reproducibilidad de los Resultados , UltrasonografíaRESUMEN
INTRODUCTION: Management of zygomatic bone fractures is still debated. Method and delay for intervention has to be chosen considering respective issues of operative or conservative treatments, especially hemorrhagic complications. The maxillofacial surgeon must be able to determine life-threatening situations and to react appropriately. CASES REPORT: We report 2 cases of external carotid branches pseudoaneurysm leading to massive hemorrhage after early or delayed zygomatic fracture surgery. The first patient underwent open reduction of fracture by intraoral approach. An active bleeding occurred in the immediate postoperative time. In the second case, a zygomatic osteotomy was performed 1 year after fracture. Bleeding occurred 2 weeks after surgery. In both cases, angiography demonstrated a pseudoaneurysm developed from the external carotid branches. Embolisation led to rapid bleeding control. DISCUSSION: Severe hemorrhage resulting from maxillofacial trauma may be life-threatening. Once the "damage control" principles applied, selective embolisation of external carotid branches is an efficient alternative to surgery for the control of bleeding resulting from ruptured pseudoaneurysm.
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Osteotomía/efectos adversos , Hemorragia Posoperatoria/patología , Cigoma/cirugía , Fracturas Cigomáticas/cirugía , Adulto , Anciano , Traumatismos de las Arterias Carótidas/complicaciones , Traumatismos de las Arterias Carótidas/terapia , Embolización Terapéutica , Femenino , Humanos , Masculino , Arteria Maxilar/patología , Arteria Maxilar/cirugía , Hemorragia Posoperatoria/etiologíaRESUMEN
ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001.
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Proteínas del Ojo/genética , Degeneración Macular/genética , Secuencia de Bases , Bestrofinas , Canales de Cloruro , ADN/química , ADN/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Degeneración Macular/patología , Masculino , Mutación , Mutación Missense , LinajeRESUMEN
PURPOSE: To determine if a family in France, which manifests an autosomal dominant macular dystrophy, has North Carolina macular dystrophy (MCDR1) and to determine its possible molecular genetic relationship with the original North Carolina family. METHODS: A family from Northern France with a macular dystrophy underwent comprehensive ophthalmic examinations and were ascertained for genetic studies. Blood collection and examinations were performed on 38 individuals. Fundus photographs with a hand held KOWA camera were obtained on affected subjects. DNA was extracted and genotyping performed using new microsatellite genetic markers, which have recently been found in the MCDR1 (North Carolina macular dystrophy) region. Standard two - point linkage and haplotype analysis was performed. RESULTS: Eleven individuals were found with the clinical manifestations of North Carolina macular dystrophy. Two - point linkage analysis generated a maximum peak LOD score of 4.5 with a recombination of 0% between D6S1717 and the macular dystrophy locus in the French family. The haplotype associated with the disease is, however, different from that of the original North Carolina family. CONCLUSIONS: These findings indicate that the macular dystrophy gene in this French family maps to the same region as that of North Carolina macular dystrophy (MCDR1) locus but that independent mutations are involved. The disease in the French family is clinically and genetically similar to North Carolina macular dystrophy. Therefore MCDR1 occurs in various ethnic groups, is present world-wide, and there remains no evidence of genetic heterogeneity for this clinically distinct form of macular degeneration.
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Degeneración Macular/genética , Adolescente , Adulto , Mapeo Cromosómico , ADN/análisis , Femenino , Francia , Genes Dominantes , Ligamiento Genético , Marcadores Genéticos , Humanos , Degeneración Macular/metabolismo , Masculino , Repeticiones de Microsatélite/genética , North Carolina , LinajeRESUMEN
PURPOSE: We previously reported linkage of North Carolina macular dystrophy in a single isolated family to a broad region on chromosome 6q16. In order to refine the localization of the MCDR1 gene (North Carolina macular dystrophy), additional families with this disease and new markers were studied. METHODS: We ascertained 10 families with the North Carolina macular dystrophy phenotype (MCDR1). These families were of various ethnic and geographic origins such as Caucasian, Mayan Indian, African-American, French, British, German, and American of European decent. Two hundred thirty-two individuals in these families underwent comprehensive ophthalmic examinations and blood was collected for genotyping. One hundred seventeen were found to be affected. Linkage simulation studies were performed. Two-point linkage, haplotype analysis, and multipoint linkage was performed using VITESSE and FASTLINK. HOMOG was used to test for genetic heterogeneity. RESULTS: The clinical features were consistent with the diagnosis of North Carolina macular dystrophy in all families. Multipoint linkage analysis indicates that the MCDR1 gene is in the interval between D6D249 and D6S1671 with a maximum LOD score of 41.52. There was no evidence of genetic heterogeneity among the families studied. Families 765, 768, 772, 1193, and 1292 shared the same chromosomal haplotype in this region. CONCLUSIONS: This is the largest single data set of families with the MCDR1 phenotype. The single large family from North Carolina continues to be informative for the closest flanking markers and alone supports the minimal candidate region as suggested by previous studies. There remains no evidence of genetic heterogeneity in this disease. Most of the American families appear to have descended from the same ancestral mutation. The remaining families could each represent independent origins of the mutation in the MCDR1 gene.
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Cromosomas Humanos Par 6 , Proteínas del Ojo/genética , Degeneración Macular/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Ligamiento Genético , Marcadores Genéticos , Haplotipos , Humanos , Lactante , Escala de Lod , Masculino , Persona de Mediana Edad , Reacción en Cadena de la PolimerasaRESUMEN
Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.
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Artritis/patología , Exantema/patología , Granuloma/patología , Iritis/patología , Adolescente , Adulto , Artritis/genética , Ceguera/genética , Niño , Preescolar , Cromosomas Humanos Par 16 , Exantema/genética , Femenino , Retardo del Crecimiento Fetal , Genotipo , Granuloma/genética , Humanos , Lactante , Iritis/genética , Masculino , Linaje , Sarcoidosis/patología , Síndrome , Sinovitis/genética , Sinovitis/patología , Gemelos MonocigóticosRESUMEN
A study was carried out in a cat model to compare three imaging methods (X-ray, bone scintigraphy (BS) and magnetic resonance imaging (MRI] in order to assess the healing of bone allografts. X-ray remains the first technique to proceed, for morphological information and control of devices. BS is very sensitive although unspecific and difficult to quantify in exploration of bone reconstruction. It may be a useful complement of X-ray methods in some pathological circumstances (stress fracture, infection, non union). MRI is a very sensitive exploration of the bone marrow, but not of the cortical bone. In its present state it is of little value in bone graft imaging because of its low specificity and because of metallic artefacts (material, micro particles).
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Tibia/trasplante , Animales , Callo Óseo/patología , Gatos , Fijación de Fractura/instrumentación , Imagen por Resonancia Magnética , Radiografía , Cintigrafía , Tibia/diagnóstico por imagen , Tibia/patologíaRESUMEN
In 1801 at the cemetery in Vienna, Austria, the skull of W.A. Mozart was exhumed (La Chronique Médicale, 13 (1906) 423), and now it has been examined for identification. The osteometrical and osteological findings correspond with the available data of W.A. Mozart. Superimposition gives evidence that craniofacial distinctiveness of the cranium is consistent with the portrait. Additional individual particularities caused by the premature synostosis of the metopic suture (PSMS) and a bone lesion are described.
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Cefalometría , Personajes , Música/historia , Austria , Historia del Siglo XVIIIRESUMEN
Mozart's craniofacial dysmorphism shown in his portraits and in the skull held by the Mozarteum in Salzburg (Austria) helps to document the role of pathology in human identification. The specific syndrome is formed by a premature synostosis of the metopic suture (PSMS) in association with an abnormally shaped skull.
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Craneosinostosis/historia , Personajes , Música/historia , Austria , Historia del Siglo XVIII , Humanos , MasculinoRESUMEN
A previously healthy 30-year-old woman who had cognitive impairment since childhood suddenly developed progressive spastic paraparesis. Visual impairment and characteristic retinal macular spots supported the diagnosis of Kjellin syndrome. This disease, probably transmitted by autosomal recessive inheritance, is seldom observed in clinical practice. We describe the characteristics of Kjellin syndrome and the differential diagnosis, including other macular changes associated with spastic paraparesis.
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Discapacidad Intelectual , Degeneración Macular , Paraparesia Espástica , Trastornos de la Visión , Adulto , Femenino , Humanos , SíndromeRESUMEN
The authors present a work intended to assess the effects of lumbar sympathectomy using radioactive microspheres. These contain 99mTe and are injected into the femoral artery. The distribution of radioactivity is then measured at the lower limb with a gamma camera linked to a computer. Seventeen patients were tested before and after lumbar sympathectomy. It appears from this short series that lumbar sympathectomy causes a redistribution of the radioactive material directed towards the extremities, mainly the feet.
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Arteriopatías Oclusivas/terapia , Pierna/irrigación sanguínea , Albúmina Sérica , Simpatectomía , Tecnecio , Anciano , Arteriopatías Oclusivas/complicaciones , Complicaciones de la Diabetes , Estudios de Evaluación como Asunto , Humanos , Microesferas , Persona de Mediana Edad , Flujo Sanguíneo RegionalRESUMEN
The authors evaluated a family with X-linked progressive cone dystrophy and special attention was paid to female carriers. Twenty-four members of the family were examined. One generation II--male and five generation III--males were affected. Two generation II--females who, in each case had affected children, but who were asymptomatic, underwent electrophysiological evaluations. The electroretinograms were found to be subnormal in both patients with alterations of cone-mediated responses and color vision. The discovery of abnormalities in female carriers emphasized the necessity of systematically performing electroretinography, together with color vision testing and pedigree examination, when assessing so called sporadic cone dystrophy or in cases where the modes of inheritance are not clear.
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Heterocigoto , Retinitis Pigmentosa/fisiopatología , Adolescente , Adulto , Defectos de la Visión Cromática/genética , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Linaje , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Factores Sexuales , Cromosoma XRESUMEN
The authors present part of a study concerning inherited retinal dystrophies as recorded among the inhabitants of the Nord-Pas-de-Calais region of France. This retrospective study, covering eighteen years (from 1972 to 1989) and covering a population of nearly 4 millions inhabitants, has enabled us to assess the prevalence of each disease. 1,660 cases have been detected and 650 pedigrees have been established. The spatial distribution of the patients in reference to their places of origin in relation to the spatial division of area into "communes" or districts roughly corresponded to the population density and revealed a few centres of dominant retinal dystrophies in rural areas. The analysis of the distribution and inheritance of the various forms of retinitis pigmentosa confirmed the results obtained in other recent and similar studies carried out in other countries. The age pyramid of the detected cases followed that of the population under surveillance. Detection of all dystrophies increased up to the age of 35, then followed the normal decreasing pattern for older generations. As for retinoschisis, detection usually took place in the first fifteen years after birth; for Stargardt's disease, it has occurred up to the age of 20 and for Best's dystrophy, the process was the most extensive and the slowest to appear. The global number of dystrophies studied, corresponded to a prevalence of 1:1,490, which allowed us to estimate that the number of cases in France was 33,800. If we apply the phenomenon to all the populations of the European Community, we must consider that more than 300,000 patients are now affected by disabling hereditary retinal dystrophies.
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Enfermedades Hereditarias del Ojo/genética , Degeneración Retiniana/genética , Estudios de Cohortes , Enfermedades Hereditarias del Ojo/epidemiología , Femenino , Francia , Humanos , Masculino , Linaje , Prevalencia , Degeneración Retiniana/epidemiología , Estudios RetrospectivosRESUMEN
Vitreoretinochoroidopathy with microcornea, glaucoma and cataract must be considered to be a distinctively autosomal dominant affection. The authors present evidence in the form of 18 carriers of the same anomaly detected with a pedigree extending up to six generations. Microcornea and vitreoretinochoroidal dystrophy are the prime characteristics; hypertonia and cataract are induced complications. The syndrome may be attributed to a hereditary dysgenesis affecting the anterior part of the globe with trabecular and preequatorial corneal alterations. The dystrophy has a slow development as shown by the clinical and electroretinographic course. Present treatment only consists of controlling ocular hypertonia and cataract.
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Catarata/genética , Distrofias Hereditarias de la Córnea/genética , Enfermedades Hereditarias del Ojo/genética , Glaucoma/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Enfermedades de la Coroides/genética , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Linaje , Enfermedades de la Retina/genética , Síndrome , Cuerpo Vítreo/anomalíasRESUMEN
PURPOSE: Achromatopsia is a hereditary disease responsible for congenital low vision. Patients present with nystagmus, abnormal visual behavior or photophobia. Only the electroretinogram (ERG) can confirm the diagnosis in infants. PATIENTS AND METHODS: Thirty children referred for nystagmus or low vision were included in this retrospective study. A complete ophthalmological examination, an ERG and when possible a color vision test (Ishihara, Farnsworth 15 Hue test) was done. A Ganzfeld ERG was performed in accordance with ISCEV standards in patients more than 6 years of age. In younger patients, a simplified method using electroluminescent diode stimulation was used and a comparative ERG in accordance with ISCEV standards was performed when the patients were old enough. RESULTS: The ERG response was identical in children and adults. It confirmed the diagnosis of achromatopsia: the scotopic components obtained in dark adapted conditions were normal, (scotopic a-wave, b2 wave). The photopic components, recorded in light-adapted conditions, in order to inhibit the scotopic response (photopic wave, b1 wave), were not recordable. The color vision tests confirmed color blindness; however, in some patients color denomination was correct. CONCLUSION: The simplified ERG procedures performed in our series were reliable in detecting achromatopsia. However, it may not be sufficient to discriminate complete from incomplete achromatopsia.
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Defectos de la Visión Cromática/congénito , Defectos de la Visión Cromática/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Electrorretinografía , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Factores de TiempoRESUMEN
Pufferfish poisoning has rarely been reported in the southwestern Indian Ocean and in the French overseas territories. In Reunion Island, the last notified documented case occurred in 1989 and people are no longer aware of the potential toxicity of pufferfish. We report a family hospitalized for a tetrodotoxin poisoning following the consumption of Lagocephalus sceleratus caught on the coast of Reunion Island in September 2013. Two patients presenting acute vital functions failures were admitted in an ICU. Ten people were admitted simultaneously to the emergency department after consuming L. sceleratus with signs of toxicity appearing within 2 hours. Treatment was supportive, but included the need for mechanical ventilation for two patients. All those affected had complete and uneventful recoveries within a few days. The fish consumed was identified as L. sceleratus, a species known to contain tetrodotoxin. The diagnosis of tetrodotoxin poisoning was suggested by typical clinical manifestations together with the history of very recent consumption of tetrodotoxin-containing fish. Tetrodotoxin was later detected at high levels in food remnants. To the best of our knowledge, there has been no documented case series of tetrodotoxin poisoning reported from Reunion Island for the last 25 years and from the entire Indian Ocean area since 1998. Pufferfish intoxication is one of the most common causes of poisoning among people in coastal regions of Asia but it has also recently been reported in areas where it was previously unknown, particularly along the Mediterranean shores and in Spain. Public health education in French overseas territories and along the Mediterranean shores should be adapted to include increased awareness of the danger of consuming pufferfish. Health teams must be aware of such clinical presentations.
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Enfermedades Transmitidas por los Alimentos/etiología , Alimentos Marinos/envenenamiento , Tetraodontiformes , Tetrodotoxina/envenenamiento , Adolescente , Adulto , Anciano , Animales , Bioensayo , Bradicardia/inducido químicamente , Bradicardia/terapia , Niño , Comorbilidad , Huevos/análisis , Salud de la Familia , Femenino , Enfermedades Transmitidas por los Alimentos/epidemiología , Enfermedades Transmitidas por los Alimentos/terapia , Humanos , Hígado/química , Masculino , Ratones , Persona de Mediana Edad , Músculo Esquelético/química , Cuadriplejía/inducido químicamente , Cuadriplejía/terapia , Respiración Artificial , Parálisis Respiratoria/etiología , Parálisis Respiratoria/terapia , Reunión/epidemiología , Tetrodotoxina/análisis , Adulto JovenRESUMEN
The complex regional pain syndrome type 1 from the surgeon's point of view: description of the symptoms, imaging (nuclear medicine, MRI) and of the associated psychological context. Importance of the need for a multi-disciplinary organization from the diagnostic to the therapeutic care.
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Distrofia Simpática Refleja/cirugía , Distrofia Simpática Refleja/terapia , Procedimientos Quirúrgicos Operativos , Actitud del Personal de Salud , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Magnética , Dolor Postoperatorio/terapia , Médicos , Tomografía de Emisión de Positrones , Distrofia Simpática Refleja/diagnóstico , Distrofia Simpática Refleja/patología , Distrofia Simpática Refleja/psicología , Heridas y Lesiones/complicacionesRESUMEN
Many features allow to assert that Stargardt disease and fundus flavimaculatus are the one and same disease: clinically and functionally, macular and perimacular lesions present an absolute identity "Pure" fundus flavimaculatus does not exist the two affections can be found in a same pedigree (5 cases) a patient presenting one of these diseases can develop a more complete form (7 cases). The disease is usually and more often inherited as an autosomal recessive than an autosomal dominant fashion (5 cases out of 96 genealogies) with variable expressivity particularly for "flavimacular" lesions. The frequency of the disease is 1/6,670 inhabitants. There are two genes or more in charge of the disease.