[Computed tomography lung density and small vessel quantification in pulmonary hypertension associated with progressive fibrosing interstitial lung disease (PF-ILD)]. / Densité pulmonaire et quantification vasculaire tomodensitométrique dans l'hypertension pulmonaire associée aux pneumopathies interstitielles diffuses fibrosantes.

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.

Thoracic ultrasound accuracy for the investigation of initial neonatal respiratory distress.

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.

Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist.

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.

Life-threatening hemorrhage after zygomatic bone surgery. About 2 posttraumatic cases.

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.

Family tetrodotoxin poisoning in Reunion Island (Southwest Indian Ocean) following the consumption of Lagocephalus sceleratus (Pufferfish).

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.

[The surgeon's viewpoint concerning Complex Regional Pain Syndrome 1]. / Le vécu de l'algoneurodystrophie ou syndrome douloureux régional complexe de type 1 par le chirurgien.

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.

[Congenital achromatopsia: electroretinogram in early diagnosis]. / Achromatopsie congénitale: interêt de l'électrorétinogramme pour le diagnostic précoce.

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.

[Kjellin syndrome]. / Syndrome de Kjellin.

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.

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

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.

North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.

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.

Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

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.

North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.

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.

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

Alström syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy, obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the charts of eight patients followed for periods of 2 to 22 years, we established the natural history of this syndrome during childhood. Five patients, in four families, were seen between the ages of 3 weeks and 4 months with a dilated cardiomyopathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented in the eight patients between the ages of 5 months and 15 months. In all patients, electroretinography initially showed a severe cone impairment with mild (2/8) or no (6/8) rod involvement. Electroretinograms, obtained again at ages 9 to 22 years for four patients, revealed extinguished rod-and-cone responses. Obesity developed during childhood in seven patients, in at least three of them before age 2 years. Hearing impairment (5/8) and diabetes/glucose intolerance (4/8) were diagnosed at the end of the first decade or during the second decade. This constellation of features should facilitate early diagnosis of the syndrome.

Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region.

The gene involved in juvenile retinoschisis (RS) has previously been localized, by genetic linkage analyses, to Xp22.1-p22.2, between DXS274 and DXS43/DXS207; it is closely linked to the latter markers. From our recent data, this interval represents a genetic distance of approximately 10 cM. In the present study, we have studied 14 French families with X-linked juvenile RS by using four CA polymorphisms that are closely linked to the RS locus and that have recently been included in an Xp22.1-p22.2 high-resolution map. Complete cosegregation with the disease locus was observed for three of them, DXS207, DXS418, and DXS999, which further confirms the locus homogeneity for RS and the close linkage to this region. One recombinant was found with the most proximal marker, AFM291wf5, thereby defining this marker as the new proximal boundary of the candidate region for RS. Under the assumption that DXS207 and DXS43 constitute the distal boundary, the present study further reduces the region containing the disease gene to a interval of 3-4 cM. The results reported here should facilitate the eventual cloning of the RS gene.

[Vitreoretinochoroidal heredo-dystrophy, microcornea, glaucoma and cataract]. / Hérédo-dystrophie choriorétinovitréenne, microcornée, glaucome et cataracte.

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.

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France]. / Epidémiologie et prévalence des principales dystrophies rétiniennes héréditaires dans le Nord de la France.

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.

[Individualization of X-flavimaculated macular dystrophy in hereditary macular dystrophies]. / Individualisation de la dystrophie maculaire en X flavimaculée dans le cadre des hérédo-dystrophies maculaires.

X-shaped macular dystrophy with flavimaculatus flecks is individualized of other heredo-macular dystrophies. This aspect was showed in two families with a retinal pigment epithelial dystrophy characterised by an X-shaped yellowish macular lesion and numerus flavimaculatus retinal flecks. Nine members were variously affected. The condition was bilateral, had a dominant inheritance, started in middle age with a slow-developing macular lesion. Visual functions were often minimally disturbed for two or three decades. Relations with others here-domacular dystrophy are discussed particularly with pattern dystrophy.

Biointegration of massive bone allografts: imaging and histological studies in cat.

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).