ABSTRACT
Coronavirus disease 19 (COVID-19) was first observed in Wuhan, China. The disease is caused by a virus (SARS-CoV-2), which spread around the world within a matter of weeks, leading to a large number of deaths. While the health crisis was managed on the ground, the scientific community focused on finding a means to stop it. Vaccine candidates such as the mRNA vaccines (Pfizer BTN162b2 and Moderna mRNA-1273), started to emerge. As these treatments came on the market recently, there is still concern about potential side effects, among them, Herpes Zoster Ophthalmicus (HZO).
Subject(s)
COVID-19 , Herpes Zoster Ophthalmicus , Humans , Herpes Zoster Ophthalmicus/diagnosis , Herpes Zoster Ophthalmicus/drug therapy , 2019-nCoV Vaccine mRNA-1273 , BNT162 Vaccine , SARS-CoV-2 , COVID-19/prevention & control , Vaccination/adverse effectsABSTRACT
Therapeutic advances in oncology have led to longer survival in many forms of cancer, including those complicated by bone metastases. When a bone metastasis is painful or when there is a risk of fracture, interventional radiology procedures can be carried out for pain control and/or stabilisation. All of these techniques can be performed under local anaesthesia. Cementoplasty and vertebroplasty are stabilisation procedures consisting in the percutaneous injection of acrylic cement into a lytic bone lesion. The effect on pain can be explained by the consolidation of weakened, fractured or pre-fractured bone, but also to a lesser extent by the toxic, chemical and thermal effect of the cement. Tumour ablation techniques include alcoholisation or thermal ablation (by heat with radiofrequency and microwave or cold by cryoablation). Percutaneous thermal ablation of bone tumours is most often performed as a palliative measure resulting in a significant and lasting reduction in symptoms. Radiofrequency ablation consists in placing needles through which an electrical current passes. Microwave ablation acts by causing very high frequency vibrations of water molecules. Cryoablation releases argon gas at the tip of the needle, forming an "ice ball" effectively destroying tumour cells. Any of these techniques can be combined to radiation therapy, performed before or after radiation. Finally, tumour embolisation can have a goal of pain control, or preparation of surgery to reduce the risk of peroperative haemorrhage.
Subject(s)
Bone Neoplasms/secondary , Bone Neoplasms/therapy , Cancer Pain/therapy , Fractures, Spontaneous/therapy , Radiology, Interventional/methods , Anesthesia, Local , Bone Cements/therapeutic use , Catheter Ablation/methods , Cementoplasty/methods , Cryosurgery/methods , Embolization, Therapeutic/methods , Ethanol/administration & dosage , Fractures, Spontaneous/etiology , Fractures, Spontaneous/prevention & control , Hemorrhage/prevention & control , Humans , Microwaves/therapeutic use , Nerve Block/methods , Palliative Care/methods , Radiofrequency Ablation/methods , Solvents/administration & dosage , Vertebroplasty/methodsABSTRACT
PURPOSE: The aim of this study was to evaluate the possibly protective link of smoking in keratoconic patients treated with accelerated cross-linking. METHODS: A telephone survey was conducted among 80 KC patients treated by accelerated cross-linking (A-CXL). The questions focused on general history, possible atopy and smoking habits. Results were compared to those of the general population by indirect standardization by age and sex according to the French national INPES survey. RESULTS: Sixty-two patients with KC were analyzed. The mean age at diagnosis was 22 years (SD 5). The mean age at which A-CXL was performed was 23 years (SD 6). Daily smokers represented 19 %, occasional smokers 8 %, ex-smokers 21 % and non-smokers 52 %. The mean age at which the patients began smoking was 17 (SD 2) years. Ex-smokers quit at a mean age of 24 (SD 4) years. The observed rates and expected rates of daily smokers were 19 % and 39 % respectively at the time of the survey (P=0.01), 24 % and 35 % at the time of the A-CXL treatment (P=0.10) and 31 % and 35 % at the time of diagnosis (P=0.58). The decrease in the rate of observed daily smokers over time was significant (P=0.02). DISCUSSION: Our data does not appear to suggest a significant protective effect of smoking on the occurrence of KC. It shows a lesser proportion of smokers in KC patients after A-CXL, but this difference did not exist at the time of KC diagnosis.
Subject(s)
Collagen , Keratoconus/therapy , Tobacco Smoking , Adult , Collagen/chemistry , Cross-Linking Reagents , Female , Humans , Male , Protective Factors , Retrospective Studies , Young AdultABSTRACT
The authors report their experience with the use of Integra® dermal substitute, in combination with a thin skin graft, following an orbital exenteration. The clinical case described relates to a 42-year-old gentleman with an ulcerative retractile lesion of the right lower eyelid. Histopathological examination diagnosed a moderately differentiated epidermoid carcinoma infiltrating the orbit. Total exenteration was necessary as well as secondary radiation therapy and chemotherapy. Rehabilitation of the exenterated socket was performed by inserting an Integra® patch, followed by an additional thin skin graft one month later. The authors review the various available techniques for exenterations, their indications and the various possible secondary rehabilitations. Despite being less utilized, the dermal substitute technique, which is relatively new, seems to offer quicker and easier rehabilitation compared to traditional techniques. A comparative study would be necessary to define superiority among the different techniques of exenteration, with respect to the speed of rehabilitation and resistance to radiation therapy.
Subject(s)
Carcinoma, Squamous Cell/surgery , Orbit Evisceration/methods , Orbital Neoplasms/surgery , Plastic Surgery Procedures/methods , Skin Transplantation , Skin, Artificial , Adult , Carcinoma, Squamous Cell/pathology , Eye Neoplasms/surgery , Eyelids/surgery , Humans , Male , Orbit/surgery , Surgical FlapsABSTRACT
Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, identified in two monozygotic twins and one unrelated patient through array-CGH analysis. By cloning the deletion breakpoints, we could show that these deletions are not mediated by segmental duplications. The patients displayed a distinct clinical phenotype characterized by mild intellectual disability, short stature with high body mass index, thick hair, arched eyebrows, flat profile with broad chin and mild prognathism, broad, and slightly overhanging tip of the nose, short neck with cervical gibbus. The twin patients developed a metabolic syndrome (type 2 diabetes, hypercholesterolemia, vascular hypertension) during the third decade of life. Although long-term follow-up and collection of additional patients will be needed to obtain a better definition of the phenotype, our findings characterize a previously undescribed syndromic disorder associated with haploinsufficiency of the chromosome 9q31.1q31.3 region.
Subject(s)
Chromosome Deletion , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 9 , Phenotype , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Adult , Base Sequence , Chromosome Breakpoints , Comparative Genomic Hybridization , Diagnosis, Differential , Facies , Female , Humans , Membrane Proteins/genetics , Microsatellite Repeats , Sequence Analysis, DNA , Syndrome , Twins, Monozygotic , Young AdultABSTRACT
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently submicroscopic duplications of this region on Xq28 have been recognized in four females, and a triplication in a fifth, all in combination with random X-chromosome inactivation (XCI). Based on this small series, it was concluded that in females with MECP2 duplication and random XCI, the typical symptoms of affected boys are not present. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. The collected data indicate that the associated phenotype in females is distinct from males with similar duplications, but the clinical effects may be as severe as seen in males.
Subject(s)
Abnormalities, Multiple/diagnosis , Chromosome Duplication , Chromosomes, Human, X/genetics , Intellectual Disability/genetics , Methyl-CpG-Binding Protein 2/genetics , Phenotype , Abnormalities, Multiple/genetics , Child , Chromosome Banding , Female , Genetic Association Studies , Humans , Pedigree , X Chromosome InactivationABSTRACT
In this chapter, we report the results of orbital tumor management in a few neurosurgical departments and compare it to a Paris neurosurgical department that has developed a close relation with an ophthalmological department. These departments' activity is quite low, treating mainly sphenoorbital meningiomas. Other tumor groups are unequally and sporadically managed.
Subject(s)
Neurosurgical Procedures/methods , Orbital Neoplasms/surgery , Age Factors , Exophthalmos/etiology , Female , France , Functional Laterality , Glioma/surgery , Hospitals , Humans , Lacrimal Apparatus/surgery , Lacrimal Apparatus Diseases/surgery , Male , Neurosurgical Procedures/statistics & numerical data , Paris , Vision Disorders/etiologyABSTRACT
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder affecting almost exclusively females. Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5. METHODS: Four previously reported girls and five new cases with CDKL5 mutation, ranging from 14 months to 13 years, were evaluated by two clinical geneticists, classified using a severity score system based on the evaluation of 22 different clinical signs and compared with 128 classic Rett and 25 Zappella variant MECP2-mutated patients, evaluated by the same clinical geneticists. Clinical features were compared with previously described CDKL5 mutated patients. Both the statistical and the descriptive approach have been used to delineate clinical diagnostic criteria. RESULTS: All girls present epilepsy with onset varying from 10 days to 3 months. Patients may present different type of seizures both at onset and during the whole course of the disease; multiple seizure types may also occur in the same individual. After treatment with antiepileptic drugs patients may experience a short seizure-free period but epilepsy progressively relapses. Typical stereotypic hand movements severely affecting the ability to grasp are present. Psychomotor development is severely impaired. In the majority of cases head circumference is within the normal range both at birth and at the time of clinical examination. CONCLUSION: For the practical clinical approach we propose to use six necessary and eight supportive diagnostic criteria. Epilepsy with onset between the first week and 5 months of life, hand stereotypies, as well as severe hypotonia, are included among the necessary criteria.
Subject(s)
Rett Syndrome/diagnosis , Seizures/diagnosis , Adolescent , Age of Onset , Anticonvulsants/therapeutic use , Child , Child, Preschool , Epilepsy/diagnosis , Epilepsy/drug therapy , Epilepsy/genetics , Female , Genetic Variation , Head/pathology , Humans , Infant , Methyl-CpG-Binding Protein 2/genetics , Muscle Hypotonia/diagnosis , Muscle Hypotonia/genetics , Mutation , Protein Serine-Threonine Kinases/genetics , Rett Syndrome/drug therapy , Rett Syndrome/genetics , Seizures/drug therapy , Seizures/genetics , Treatment OutcomeABSTRACT
The preserved speech variant is the milder form of Rett syndrome: affected girls show the same stages of this condition and by the second half of the first decade are making slow progress in manual and verbal abilities. They walk without help, and may be able to make simple drawings and write a few words. Most of them can speak in sentences. Autistic behavior can often be observed. We previously described several cases in the pre-molecular era and subsequently reported a survey of 12 cases with MECP2 mutations. Seventeen new patients with the preserved speech variant and a proven MECP2 mutation have been clinically evaluated. Additional clinical data of our previously described cases are reported. These 29 preserved speech variant cases were compared with 129 classic Rett patients using a clinical severity score system including 22 different signs. There was both statistical and clinical evidence of the existence of this variant. On the basis of their abilities these girls can be distinguished as low-, intermediate- and high-functioning. Girls of the last two groups show a greater homogeneity: they speak in sentences, use their hands more easily, have normal somatic features, mild neurovegetative abnormalities, with autistic behavior in 76%, epilepsy in 30%, while girls of the first group are closer to classic Rett syndrome. The majority of patients carries either missense mutations (especially the p.R133C change) or late truncating mutations in the MECP2 gene. These results confirm the existence of this variant of Rett syndrome (Zappella variant), a clear example of progress of manual and verbal abilities, and not of a "preserved speech" and suggest corresponding diagnostic criteria.
Subject(s)
Rett Syndrome/diagnosis , Speech Disorders/diagnosis , Adolescent , Adult , Child , Child, Preschool , Discriminant Analysis , Female , Humans , Methyl-CpG-Binding Protein 2/genetics , Mutation , Phenotype , Rett Syndrome/classification , Rett Syndrome/genetics , Severity of Illness Index , Speech Disorders/genetics , Young AdultABSTRACT
BACKGROUND: The rationale for using central venous oxygen saturation (ScvO(2)) in various clinical scenarios is that it reflects the balance between oxygen delivery (DO(2)) and demands. In this study, we evaluated the correlation between ScvO(2) and DO(2) changes (Delta Do(2), DeltaScvO(2)) in patients receiving fluid therapy following coronary surgery. We also correlated the changes of mean arterial pressure (Delta MAP) and central venous pressure (Delta CVP), with Delta DO(2). METHODS: Sixty consecutive sedated and mechanically ventilated adult patients, with cardiac index Subject(s)
Fluid Therapy
, Oxygen/blood
, Female
, Humans
, Male
, Veins/metabolism
ABSTRACT
We report the case of a 60-year-old woman who underwent mitral valve replacement and tricuspid valve repair. Following surgery she developed rapid onset of ascitis and secondary abdominal compartmental syndrome with low cardiac output and oliguria. Following drainage of the ascitis, the abdominal pressure dropped with a spectacular improvement of both the cardiac ant the urine output.
Subject(s)
Abdomen , Compartment Syndromes/etiology , Heart Valve Diseases/surgery , Cardiac Surgical Procedures/adverse effects , Female , Humans , Middle AgedABSTRACT
Se presenta el caso clínico de una paciente que ingresa por un cuadro neurológico proteiforme, pero que orientaba a un sufrimiento de tronco cerebral bajo y medular alto. La imagenología confirmó un descenso amigdalino, simulando un Chiari, sin aspecto malformativo, pero que mostró la presencia de lesiones fundamentalmente en la base de cráneo que orientaban a un proceso granulomatoso. La anatomía patológica del material obtenido durante la cirugía confirmó una neurosarcoidosis. La neurosarcoidosis es una enfermedad infrecuente. Forma parte de una de las formas de presentación de la sarcoidosis, afección multisistémica, de carácter inflamatorio, caracterizada por la formación de granulomas. Además de analizarse el caso clínico, se realiza una actualización de la enfermedad y se efectúa una revisión de la escasa bibliografía al respecto.(AU)
Subject(s)
Female , Humans , Sarcoidosis , Arnold-Chiari MalformationABSTRACT
Se presenta el caso clínico de una paciente que ingresa por un cuadro neurológico proteiforme, pero que orientaba a un sufrimiento de tronco cerebral bajo y medular alto. La imagenología confirmó un descenso amigdalino, simulando un Chiari, sin aspecto malformativo, pero que mostró la presencia de lesiones fundamentalmente en la base de cráneo que orientaban a un proceso granulomatoso. La anatomía patológica del material obtenido durante la cirugía confirmó una neurosarcoidosis. La neurosarcoidosis es una enfermedad infrecuente. Forma parte de una de las formas de presentación de la sarcoidosis, afección multisistémica, de carácter inflamatorio, caracterizada por la formación de granulomas. Además de analizarse el caso clínico, se realiza una actualización de la enfermedad y se efectúa una revisión de la escasa bibliografía al respecto.
Subject(s)
Female , Humans , Sarcoidosis , Arnold-Chiari MalformationABSTRACT
La hemorragia subaracnoidea (HSA) por rotura de aneurismas cerebrales sigue siendo una enfermedad con una elevada morbimortalidad a pesar de los continuos avances en diagnóstico y tratamiento. De ahí que cobra gran importancia el manejo de aquellos aneurismas no rotos. Sigue siendo controversial el manejo de estas malformaciones, ya que hay quienes sostienen que los porcentajes de sangrado de un aneurisma no roto son muy bajos. Por el contrario hayn quienes aseveran que dichos porcentajes pueden llegar al cuatro por ciento anual y acumulable, lo que redunda en una disminución de la expectativa de vida en los portadores de aneurismas no rotos. Los autores realizan una división de los aneurismas no rotos en tres grupos, con riesgos diferentes de complicación según el tipo en cuestión. Se hace además un análisis de los resultados quirúrgicos en una serie de cincuenta y tres pacientes con aneurismas no rotos, llegándose a la conclusión que los riesgos quirúrgicos son inferiores a los riesgos naturales de la enfermedad. (AU)
Subject(s)
Humans , Intracranial Aneurysm , Subarachnoid Hemorrhage , Aneurysm/classification , Aneurysm/surgery , Aneurysm/therapyABSTRACT
La hemorragia subaracnoidea (HSA) por rotura de aneurismas cerebrales sigue siendo una enfermedad con una elevada morbimortalidad a pesar de los continuos avances en diagnóstico y tratamiento. De ahí que cobra gran importancia el manejo de aquellos aneurismas no rotos. Sigue siendo controversial el manejo de estas malformaciones, ya que hay quienes sostienen que los porcentajes de sangrado de un aneurisma no roto son muy bajos. Por el contrario hayn quienes aseveran que dichos porcentajes pueden llegar al cuatro por ciento anual y acumulable, lo que redunda en una disminución de la expectativa de vida en los portadores de aneurismas no rotos. Los autores realizan una división de los aneurismas no rotos en tres grupos, con riesgos diferentes de complicación según el tipo en cuestión. Se hace además un análisis de los resultados quirúrgicos en una serie de cincuenta y tres pacientes con aneurismas no rotos, llegándose a la conclusión que los riesgos quirúrgicos son inferiores a los riesgos naturales de la enfermedad.
Subject(s)
Humans , Subarachnoid Hemorrhage , Intracranial Aneurysm , AneurysmABSTRACT
La hemorragia subaracnoidea (HSA) por rotura de aneurismas cerebrales sigue siendo una enfermedad con una elevada morbimortalidad a pesar de los continuos avances en diagnóstico y tratamiento. De ahí que cobra gran importancia el manejo de aquellos aneurismas no rotos. Sigue siendo controversial el manejo de estas malformaciones, ya que hay quienes sostienen que los porcentajes de sangrado de un aneurisma no roto son muy bajos. Por el contrario hayn quienes aseveran que dichos porcentajes pueden llegar al cuatro por ciento anual y acumulable, lo que redunda en una disminución de la expectativa de vida en los portadores de aneurismas no rotos. Los autores realizan una división de los aneurismas no rotos en tres grupos, con riesgos diferentes de complicación según el tipo en cuestión. Se hace además un análisis de los resultados quirúrgicos en una serie de cincuenta y tres pacientes con aneurismas no rotos, llegándose a la conclusión que los riesgos quirúrgicos son inferiores a los riesgos naturales de la enfermedad. (AU)