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1.
Rev Neurol ; 76(10): 321-325, 2023 05 16.
Article in Spanish | MEDLINE | ID: mdl-37165528

ABSTRACT

OBJECTIVES: To describe a series of patients with episodic ataxia type 2 (EA2), attending to epidemiological, clinical, radiological, and therapeutic variables. MATERIAL AND METHODS: Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made. RESULTS: Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descendance with infant mortality due to early-onset epileptic encephalopathy type 42. Five pathogenic/probably pathogenic CACNA1A variants were detected. 80% of patients had episodic triggers, being stress the most common. Episodes had a weekly frequency before treatment initiation. Six patients developed chronic ataxia (one patient demand gait support). 50% of patients with neuroimaging presented cerebellar atrophy. Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms. Nephrolithiasis was the most frequent side effect. CONCLUSIONS: EA2 has a great intrafamilial and interfamilial phenotypic variability. The most frequent phenotype were weekly episodes of unsteadiness, several hours of length, stress as the main trigger, chronic ataxia and gaze-evoked nystagmus. Acetazolamide is effective, although complications are usual. Neurologist must be alert as diagnostic delay is constant.


TITLE: Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes.Objetivo. Describir una serie de pacientes con ataxia episódica tipo 2 (AE2) según variables epidemiológicas, clínicas, radiológicas y terapéuticas. Material y métodos. Revisión retrospectiva de pacientes con diagnóstico molecular de AE2 (mutación en CACNA1A) entre 1988 y 2022, información recogida de la base de datos de la Unidad de Trastornos del Movimiento de nuestro centro. Se realizó un análisis estadístico descriptivo. Resultados. Se analizó a 10 pacientes procedentes de cinco familias. La mediana de edad en el momento del diagnóstico fue 37,5 años, con un retraso diagnóstico de 20 años. El 50% asociaba epilepsia, migraña, distonía o alteraciones neuropsiquiátricas. El 70% tenía una historia familiar de síntomas asociados a CACNA1A. Dos pacientes heterocigotos consanguíneos tuvieron descendencia homocigota con mortalidad infantil por encefalopatía epiléptica de inicio precoz de tipo 42. Se detectaron cinco variantes diferentes de CACNA1A. El 80% mostró factores desencadenantes, y el estrés fue el más común. La frecuencia episódica más habitual fue semanal. Seis pacientes desarrollaron ataxia interepisódica, aunque sólo uno precisó apoyo en la marcha. El 50% de los pacientes con neuroimagen presentó atrofia cerebelosa. El 80% inició acetazolamida durante el seguimiento, con respuesta a dosis altas en el 75%. La nefrolitiasis fue el efecto adverso más frecuente. La 4-aminopiridina fue una alternativa eficaz. Conclusiones. La AE2 presenta una alta variabilidad fenotípica inter- e intrafamiliar. El fenotipo más frecuente fueron episodios de inestabilidad, de horas de duración, semanales, con estrés como desencadenante, ataxia persistente y nistagmo evocado por la mirada. La acetazolamida, aunque es eficaz, no está exenta de complicaciones. El retraso diagnóstico es muy frecuente.


Subject(s)
Acetazolamide , Cerebellar Ataxia , Humans , Female , Acetazolamide/therapeutic use , Retrospective Studies , Delayed Diagnosis , Ataxia/genetics , Ataxia/drug therapy , Cerebellar Ataxia/diagnostic imaging , Cerebellar Ataxia/genetics , Mutation
2.
Rev. neurol. (Ed. impr.) ; 76(10)May 16, 2023. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-220502

ABSTRACT

Objetivo: Describir una serie de pacientes con ataxia episódica tipo 2 (AE2) según variables epidemiológicas, clínicas, radiológicas y terapéuticas. Material y métodos. Revisión retrospectiva de pacientes con diagnóstico molecular de AE2 (mutación en CACNA1A) entre 1988 y 2022, información recogida de la base de datos de la Unidad de Trastornos del Movimiento de nuestro centro. Se realizó un análisis estadístico descriptivo. Resultados: Se analizó a 10 pacientes procedentes de cinco familias. La mediana de edad en el momento del diagnóstico fue 37,5 años, con un retraso diagnóstico de 20 años. El 50% asociaba epilepsia, migraña, distonía o alteraciones neuropsiquiátricas. El 70% tenía una historia familiar de síntomas asociados a CACNA1A. Dos pacientes heterocigotos consanguíneos tuvieron descendencia homocigota con mortalidad infantil por encefalopatía epiléptica de inicio precoz de tipo 42. Se detectaron cinco variantes diferentes de CACNA1A. El 80% mostró factores desencadenantes, y el estrés fue el más común. La frecuencia episódica más habitual fue semanal. Seis pacientes desarrollaron ataxia interepisódica, aunque sólo uno precisó apoyo en la marcha. El 50% de los pacientes con neuroimagen presentó atrofia cerebelosa. El 80% inició acetazolamida durante el seguimiento, con respuesta a dosis altas en el 75%. La nefrolitiasis fue el efecto adverso más frecuente. La 4-aminopiridina fue una alternativa eficaz. Conclusiones: La AE2 presenta una alta variabilidad fenotípica inter- e intrafamiliar. El fenotipo más frecuente fueron episodios de inestabilidad, de horas de duración, semanales, con estrés como desencadenante, ataxia persistente y nistagmo evocado por la mirada. La acetazolamida, aunque es eficaz, no está exenta de complicaciones. El retraso diagnóstico es muy frecuente.(AU)


Objectives: To describe a series of patients with episodic ataxia type 2 (EA2), attending to epidemiological, clinical, radiological, and therapeutic variables. Material and methods: Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made. Results: Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descendance with infant mortality due to early-onset epileptic encephalopathy type 42. Five pathogenic/probably pathogenic CACNA1A variants were detected. 80% of patients had episodic triggers, being stress the most common. Episodes had a weekly frequency before treatment initiation. Six patients developed chronic ataxia (one patient demand gait support). 50% of patients with neuroimaging presented cerebellar atrophy. Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms. Nephrolithiasis was the most frequent side effect. Conclusions: EA2 has a great intrafamilial and interfamilial phenotypic variability. The most frequent phenotype were weekly episodes of unsteadiness, several hours of length, stress as the main trigger, chronic ataxia and gaze-evoked nystagmus. Acetazolamide is effective, although complications are usual. Neurologist must be alert as diagnostic delay is constant.(AU)


Subject(s)
Humans , Male , Female , Adult , Ataxia , Acetazolamide , Myoclonic Cerebellar Dyssynergia , Migraine with Aura , Neurology , Nervous System Diseases
3.
Radiologia (Engl Ed) ; 65(2): 149-164, 2023.
Article in English | MEDLINE | ID: mdl-37059580

ABSTRACT

Intracranial haemorrhage (ICH) accounts for 10-30% of strokes, being the form with the worst prognosis. The causes of cerebral haemorrhage can be both primary, mainly hypertensive and amyloid angiopathy, and secondary, such as tumours or vascular lesions. Identifying the aetiology of bleeding is essential since it determines the treatment to be performed and the patient's prognosis. The main objective of this review is to review the main magnetic resonance imaging (MRI) findings of the primary and secondary causes of ICH, focusing on those radiological signs that help guide bleeding due to primary angiopathy or secondary to an underlying lesion. The indications for MRI in the event of non-traumatic intracranial haemorrhage will also be reviewed.


Subject(s)
Cerebral Amyloid Angiopathy , Magnetic Resonance Imaging , Humans , Cerebral Hemorrhage/diagnostic imaging , Cerebral Hemorrhage/etiology , Intracranial Hemorrhages , Cerebral Amyloid Angiopathy/complications , Cerebral Amyloid Angiopathy/diagnostic imaging , Prognosis
4.
Radiología (Madr., Ed. impr.) ; 65(2): 149-164, mar.- abr. 2023. ilus, tab
Article in Spanish | IBECS | ID: ibc-217617

ABSTRACT

La hemorragia intracraneal (HIC) supone un 10-30% de los ictus, siendo la forma de peor pronóstico. Las causas de hemorragia cerebral pueden ser primarias, fundamentalmente la angiopatía hipertensiva y amiloide, o secundarias, como tumores o lesiones vasculares. Identificar la etiología del sangrado es importante, ya que determina el tratamiento a realizar y el pronóstico del paciente. El objetivo principal de esta revisión es repasar los principales hallazgos por resonancia magnética (RM) de las causas de HIC primarias y secundarias, deteniéndonos en aquellos signos radiológicos que ayudan a orientar hacia un sangrado por una angiopatía primaria o bien secundario a una lesión subyacente. También se revisarán las indicaciones de RM ante una hemorragia intracraneal no traumática (AU)


Intracranial hemorrhage (ICH) accounts for 10-30% of strokes, being the form with the worst prognosis. The causes of cerebral hemorrhage can be both primary, mainly hypertensive and amyloid angiopathy, and secondary, such as tumors or vascular lesions. Identifying the etiology of bleeding is essential since it determines the treatment to be performed and the patient's prognosis. The main objective of this review is to review the main magnetic resonance imaging (MRI) findings of the primary and secondary causes of ICH, focusing on those radiological signs that help guide bleeding due to primary angiopathy or secondary to an underlying lesion. The indications for MRI in the event of non-traumatic intracranial hemorrhage will also be reviewed (AU)


Subject(s)
Cerebral Hemorrhage/diagnostic imaging , Cerebral Hemorrhage/etiology , Magnetic Resonance Imaging
5.
J Reconstr Microsurg ; 39(7): 559-564, 2023 Sep.
Article in English | MEDLINE | ID: mdl-36564050

ABSTRACT

BACKGROUND: Evidence-based medicine uses the current best evidence for decisions about patient care. Lymphedema is a chronic debilitating medical condition caused by a dysfunctional lymphatic system. This study analyzes the most cited articles, including the levels of evidence, for the surgical treatment of lymphedema. METHODS: The Web of Science Sci-Expanded Index was utilized to search for surgical treatment of lymphedema. Articles were examined by three independent reviewers and the top 100 articles were determined. The corresponding author, citation count, publication year, topic, study design, level of evidence, journal, country, and institution were analyzed. RESULTS: Since 1970, the top 100 articles have been cited 7,300 times. The average citation count was 68 and standard deviation was 55. The majority was case series (71), followed by retrospective cohort (8), prospective cohort (7), retrospective case-control (5), and randomized controlled trials (2). Based on the "Level of Evidence Pyramid," 71 articles were level IV, 13 articles were level III, and 9 articles were level II. On the Grading of Recommendations Assessment, Development, and Evaluation Scale, there were 71 articles with "very low," 20 articles with "low," and 2 articles with "moderate" quality of evidence. CONCLUSION: The top 100 cited articles were mostly case series and lacked high levels of evidence. Most studies are retrospective case series with short-term outcomes. However, low level evidence for new surgical procedures is to be expected. Current trends suggest the treatment and understanding of lymphedema will continue to improve.


Subject(s)
Bibliometrics , Lymphedema , Humans , Retrospective Studies , Prospective Studies , Evidence-Based Medicine , Lymphedema/surgery
6.
Anxiety Stress Coping ; 36(4): 519-532, 2023 07.
Article in English | MEDLINE | ID: mdl-36062467

ABSTRACT

BACKGROUND AND OBJECTIVES: The aim was to examine the role of attentional control as a psychological factor involved in socioeconomic status-related mental health differences, and specifically in social anxiety. Based on the literature on socioeconomic status differences in cognitive abilities and attentional control theory, we hypothesized that attentional control would account for the relation between socioeconomic status and social anxiety. We tested this hypothesis in an integrative model also including trait anxiety and subjective socioeconomic status. DESIGN: Cross-sectional. METHOD: Online, 439 French adults were recruited via social media. They completed self-reported measures of attentional control, objective socioeconomic status, subjective socioeconomic status, social anxiety, and trait anxiety. RESULTS: Using Structural Equation Modelling, findings showed a positive association between objective (but not subjective) socioeconomic status and attentional control, which in turn was related to social anxiety. Exploratory analyses showed that only income, as objective socioeconomic status indicator, was associated with attentional control. CONCLUSIONS: The current study is the first to support that low socioeconomic status individuals report less attentional control and more social anxiety symptoms. This suggests that attentional control is a psychological factor involved in social anxiety inequalities.


Subject(s)
Anxiety , Attention , Adult , Humans , Cross-Sectional Studies , Anxiety/psychology , Anxiety Disorders/psychology , Social Class
7.
Farm. comunitarios (Internet) ; 14(Supl 1): 1, junio 2022. graf, ilus
Article in Spanish | IBECS | ID: ibc-209306

ABSTRACT

JUSTIFICACIÓN: debido a los cambios demográficos derivados del envejecimiento de la población y el aumento de pacientes con enfermedades crónicas en el mundo, la osteoporosis se ha convertido en una enfermedad prevalente y un problema de salud pública, con importantes repercusiones debido a la morbilidad y morbimortalidad que conlleva, y a los gastos directos e indirectos que genera. Si no se interviene desde la prevención, tratamiento precoz y adherencia al mismo en la práctica clínica, el número de pacientes que sufrirán osteoporosis y sus consecuencias irá en aumento. OBJETIVOS: formar al farmacéutico comunitario en educación sanitaria para la población de más de 50 años susceptible de sufrir enfermedad osteoporótica. Establecer un conjunto de recomendaciones basadas en la evidencia científica acerca de la atención farmacéutica en la enfermedad osteoporótica. MATERIAL Y MÉTODOS: estudio cuasiexperimental con intervención formativa y evaluación antes/después. Procedimiento. Se imparte el taller de forma presencial en quince ciudades con una duración de 45 minutos, eligiendo el farmacéutico horario de mañana o de tarde. Éste consta de una parte teórica y un caso práctico dividido en tres fases de seguimiento. Los asistentes responden a cinco preguntas de impacto antes y después de asistir al taller y se comparan las respuestas.RESULTADOS/ DISCUSIÓN: un 15% más de los asistentes conoce tras el taller que el problema fundamental de la enfermedad osteoporótica es la fractura por fragilidad. La mayoría de asistentes ya sabían antes del taller que se trata de una enfermedad más frecuente en mujeres (92,3%) y que el tratamiento farmacológico más habitual son los bifosfonatos (87,6%). Además, tras asistir al taller, el 14% de los asistentes mejoraron el conocimiento de los factores de riesgo más importantes y el 16% aprendió que la técnica validada para la fragilidad ósea es la densitometría central. (AU)


Subject(s)
Humans , Osteoporosis , Pharmacists , Densitometry , Chronic Disease , Pharmacy
8.
Cancer Radiother ; 25(6-7): 630-637, 2021 Oct.
Article in French | MEDLINE | ID: mdl-34284970

ABSTRACT

Artificial intelligence approaches in medicine are more and more used and are extremely promising due to the growing number of data produced and the variety of data they allow to exploit. Thus, the computational analysis of medical images in particular, radiological (radiomics), or anatomopathological (pathomics), has shown many very interesting results for the prediction of the prognosis and the response of cancer patients. Radiotherapy is a discipline that particularly benefits from these new approaches based on computer science and imaging. This review will present the main principles of an artificial intelligence approach and in particular machine learning, the principles of a radiomic and pathomic approach and the potential of their use for the prediction of the prognosis of patients treated with radiotherapy.


Subject(s)
Machine Learning , Neoplasms/diagnostic imaging , Neoplasms/pathology , Artificial Intelligence , Biomarkers, Tumor , Diagnosis, Computer-Assisted/methods , Humans , Neoplasms/mortality , Neoplasms/radiotherapy , Prognosis , Radiation Oncology , Treatment Outcome
9.
Gynecol Obstet Fertil Senol ; 49(10): 729-735, 2021 10.
Article in French | MEDLINE | ID: mdl-33845127

ABSTRACT

INTRODUCTION: The use of new information and communication technologies is one way of better informing the patient. E-health includes telemedicine but also patient information and self-monitoring, or continuous remote monitoring with connected objects and mobile apps. It is in this context that we have developed and designed a digital application, e-consult®, which we use at the François Baclesse center, dedicated to improving information for patients. The objective of this study was to assess the performance of the e-consult® application in current practice, in order to know if the information delivered to patients was better retained with the application. METHODS: We conducted a prospective, single-center study at the Cancer Center François Baclesse. One group was received in consultation with the use of e-consult®, the other without. Following the consultation, the patient was given a questionnaire concerning her illness and a satisfaction questionnaire concerning the application. RESULTS: The average score obtained on the questionnaire in the group having benefited from a consultation with e-consult® (7.12/10) was significantly higher than that obtained in the group having benefited from a consultation without e-consult® (6.4/10) (P=0.0276). CONCLUSION: Our study showed that patients understood better the information transmitted in consultation with the use of e-consult®. In our opinion, this is the only study evaluating an application in consultation. However, our study has several weaknesses, including the lack of randomization, a small number of patient, and unvalidated questionaries. Despite these promising results, more studies with better internal validity are needed. Future research may also study the impact of the application on the doctor-patient relationship.


Subject(s)
Breast Neoplasms , Telemedicine , Breast Neoplasms/surgery , Female , Humans , Physician-Patient Relations , Prospective Studies , Referral and Consultation
10.
Opt Express ; 26(3): 3483-3488, 2018 Feb 05.
Article in English | MEDLINE | ID: mdl-29401875

ABSTRACT

A fully fibered microwave-optical source at 1.5 µm is studied experimentally. It is shown that the beat note between two orthogonally polarized modes of a distributed-feedback fiber laser can be efficiently stabilized using an optical phase-locked loop. The pump-power-induced birefringence serves as the actuator. Beat notes at 1 GHz and 10 GHz are successfully stabilized to a reference synthesizer, passing from the 3 kHz free-running linewidth to a stabilized sub-Hz linewidth, with a phase noise as low as -75 dBc/Hz at 100 Hz offset from the carrier. Such dual-frequency stabilized lasers could provide compact integrated components for RF and microwave photonics applications.

11.
Appetite ; 120: 536-546, 2018 Jan 01.
Article in English | MEDLINE | ID: mdl-29030085

ABSTRACT

There is now a large body of evidence suggesting a significant association between emotional discomfort management, disordered eating behaviors and weight status. In the field of overweight and obesity, emotionally driven eating habits that resemble addictive behaviors are considered as a risk factor. This study aimed to investigate in a large sample of French university students 1) the associations between self-reported levels of psychological distress (PD), emotional eating (EE), food addiction (FA) and Body Mass Index (BMI); and 2) the potential mediation effect of eating behaviors (EE and FA) between PD and BMI. The responses of 1051 students (76.3% females) to self-reports assessing PD (Perceived Stress Scale, Hospital Anxiety and Depression Scale), EE (Intuitive Eating Scale-2) and FA (modified Yale Food Addiction Scale) were analysed. Associations between variables (Spearman correlation) and group comparisons by sex and BMI categories (Student's t tests/ANOVA) were tested, followed by Structural Equation Modeling (SEM) by sex. Among females and males, EE and FA scores were positively inter-related and correlated with PD scores and BMI. Moreover, among females and males, SEM showed that both EE and FA acts as mediators between PD and BMI. Hence, among educated young adults, using food consumption for down-regulating negative mood places the individual at risk for overweight and obesity. This study further emphasizes the necessity to take into account emotionally driven and addictive-like eating behaviors in interventions for promoting healthy eating and weight management.


Subject(s)
Behavior, Addictive , Body Weight , Eating/psychology , Emotions , Health Behavior , Stress, Psychological/psychology , Adolescent , Adult , Behavior, Addictive/complications , Body Mass Index , Cross-Sectional Studies , Depression/diet therapy , Depression/psychology , Feeding and Eating Disorders/psychology , Female , Humans , Male , Obesity/etiology , Obesity/psychology , Overweight/etiology , Overweight/psychology , Socioeconomic Factors , Stress, Psychological/complications , Students , Surveys and Questionnaires , Young Adult
12.
Encephale ; 44(1): 59-66, 2018 Feb.
Article in French | MEDLINE | ID: mdl-28431689

ABSTRACT

INTRODUCTION: Major depressive disorder (MDD) is a debilitating disorder, and its treatment often requires complex and costly psychological therapies. Behavioral activation (BA) is a simple, effective and affordable psychotherapy recommended in the treatment of MDD. OBJECTIVES: (i) Explain the theoretical basis of BA and its application in clinical practice. (ii) Review the randomized controlled trials examining BA as a treatment for MDD through a systematic search of the existing literature. METHODS: Medline and ClinicalTrials databases were searched with the following keywords: ("behavioral activation" OR "behavioural activation") AND ("therapy" OR "psychotherapy"). (i) Articles describing BA's theoretical foundations and principles of therapy were selected. (ii) Randomized controlled trials studying BA as a treatment for depression were selected according to the PRISMA criteria. RESULTS: (i) BA is a behavioral therapy that helps patients to increase their behaviors towards rewarding and/or pleasant activities, and to decrease avoidant behaviors maintaining negative affects by negative reinforcement. BA also tends to increase behaviors towards life-goals used as positive reinforcement contingencies. BA is a brief and cost effective therapy, which can be evaluated by specific psychometric scales. (ii) BA has a strong therapeutic effect in MDD as evaluated by several randomized controlled trials of good quality. CONCLUSION: BA is a simple, affordable and effective treatment for MDD. Data is insufficient to provide proof for the interest of using commitment to life-goals as reinforcement contingencies. Behavioral inhibition is encountered amongst several psychiatric disorders and more studies should be conducted to discuss its use for other diseases such as schizophrenia or anxiety disorders.


Subject(s)
Behavior , Depressive Disorder, Major/therapy , Psychotherapy/methods , Cost-Benefit Analysis , Depressive Disorder, Major/psychology , Humans , Treatment Outcome
13.
Drug Alcohol Depend ; 163: 84-91, 2016 Jun 01.
Article in English | MEDLINE | ID: mdl-27155755

ABSTRACT

BACKGROUND: The prevention of addictions in young people is a challenge for Mental and Public Health policies, and requires specific risk-screening tools. Specific personality traits, as assessed using the Substance Use Risk Profile Scale (SURPS), could play a key role in the onset and escalation of substance use. This study aimed to examine (1) measurement invariance across age and gender (2) the effects of age and gender on associations between SURPS scores and the most frequently-consumed substances. METHODS: Analyses were based on the responses from 5069 participants (aged 14-20 years) from the 2011 ESPAD-France dataset. Substance-use outcomes were experimentation and current frequency of alcohol, tobacco and cannabis use, and drunkenness. RESULTS: Our approach, consisting in analysing measurement and structural invariance and interaction terms, established the stability of (i) SURPS profiles, and (ii) relationships between these scores and substance experimentation and use over a developmental period ranging from mid-adolescence to early adulthood. Measurement invariance across genders was also confirmed despite the absence of scalar invariance for 2 items. Significant interactions between gender and SURPS factors were established, highlighting differential vulnerability, especially concerning Hopelessness and experimentation of alcohol and drunkenness, or Impulsivity and tobacco experimentation. Finally, Anxiety Sensitivity could be protective against substance use, especially for cannabis in girls. CONCLUSIONS: Our results suggest the relevance of the SURPS to assess vulnerability towards drug use, and underline the need to consider gender differences in addiction risks.


Subject(s)
Neuropsychological Tests , Substance-Related Disorders/epidemiology , Substance-Related Disorders/psychology , Adolescent , Alcoholism/epidemiology , Female , France/epidemiology , Humans , Male , Marijuana Abuse/epidemiology , Reproducibility of Results , Risk Assessment , Risk Factors , Sex Factors , Tobacco Use/epidemiology , Young Adult
14.
Eur J Endocrinol ; 171(4): 499-507, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25214233

ABSTRACT

CONTEXT: Within the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite the presence of identical mutations. OBJECTIVES: To search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects. DESIGN: A cross-sectional study was conducted in a cohort of patients. SETTING: The French neonatal screening program was used for recruiting patients. PATIENTS: A total of 118 patients with CH, including 45 with familial and 73 with sporadic diseases, were included in this study. The thyroid gland was normal in 23 patients had hypoplasia, 25 had hemithyroid agenesis, 21 had athyreosis, and 21 had ectopy. RESULTS: We found four different PAX8 mutations (p.R31C, p.R31H, p.R108X, and p.I47T) in ten patients (six patients with CH and four family members), two with sporadic and eight with familial diseases. Imaging studies performed in the index cases showed ectopic thyroid gland (n=2), hypoplasia (n=2), eutopic lobar asymmetry (n=1), and eutopic gland compatible with dyshormonogenesis (n=1). The previously reported p.R31C and the novel p.I47T PAX8 mutations are devoid of activity. CONCLUSION: Four different PAX8 mutations were detected in six index patients with CH (ten total subjects). The p.R31C, p.R31H, and p.R108X mutations have been reported. The novel p.I47T PAX8 mutation presented loss of function leading to CH. Thyroid ectopy was observed in two cases of PAX8 (p.R31H) mutation, a finding that has not been reported previously. We observed a high inter-individual and intra-familial variability of the phenotype in PAX8 mutations, underlining that population genetic studies for CH should include patients with various clinical presentations.


Subject(s)
Congenital Hypothyroidism/genetics , Kidney/abnormalities , Mutation , Paired Box Transcription Factors/genetics , Thyroid Dysgenesis/genetics , Thyrotropin/blood , Blotting, Western , Chromatography , Congenital Hypothyroidism/diagnostic imaging , Cross-Sectional Studies , Female , France , Genetic Testing , Humans , Infant, Newborn , Isoleucine , Male , Mutagenesis , Neonatal Screening , PAX8 Transcription Factor , Paired Box Transcription Factors/metabolism , Pedigree , Phenotype , Radionuclide Imaging , Threonine , Thyroid Dysgenesis/diagnostic imaging , Transcriptional Activation , Ultrasonography
15.
Ann Fr Anesth Reanim ; 30(6): 512-5, 2011 Jun.
Article in French | MEDLINE | ID: mdl-21493033

ABSTRACT

We reported the case of a young adult with a Lemierre syndrome, which was complicated by septic shock and ARDS. Because of rapid onset of a life-threatening hypoxemia (PaO(2)/FiO(2)=60) in the course of the ARDS despite mechanical ventilation, ECMO was started with jugular and femoral cannulas, as rescue therapy. Good control of hypoxemia was obtained and ECMO was set up for six days. No significant complication was observed. The course was nevertheless complicated by acute renal failure and a pleural fistula that necessitated separate-lung ventilation during 24 hours. After 48 days left in the ICU, the patient was sent to a rehabilitation unit.


Subject(s)
Extracorporeal Membrane Oxygenation/methods , Hypoxia/therapy , Lemierre Syndrome/therapy , Salvage Therapy/methods , Acute Kidney Injury/complications , Blood Gas Analysis , Densitometry , Female , Hemodynamics/physiology , Humans , Hypoxia/etiology , Lemierre Syndrome/complications , Pleural Diseases/complications , Respiration, Artificial , Respiratory Distress Syndrome/complications , Respiratory Distress Syndrome/therapy , Shock, Septic/complications , Shock, Septic/therapy , Young Adult
16.
J Chir (Paris) ; 145(4): 323-30, 2008.
Article in French | MEDLINE | ID: mdl-18955921

ABSTRACT

Post-operative cognitive dysfunction (POCD) has been reported after a variety of surgical procedures. POCD is associated with a decline in performance of activities of daily living of elderly patients and can cause substantial damage to family and/or to social support systems. The incidence of POCD in the first week after surgery is 23% in patients between 60 and 69 years of age and 29% in patients older than 70. Cognitive dysfunction was still present in 14% of patients over 70 at three month after surgery. The risk of POCD increases with age, and the type of surgery is also important since there is very low incidence of POCD after minor surgery. For many years, it has been known that general anaesthesia is associated with persistent changes in gene expression in the brain for at least 72 hours. These observed modifications suggest an interesting hypothesis to explain the side effects of anaesthetic agents on cognitive dysfunction, particularly in the elderly. The inflammatory response to surgery is consistent with the hypothesis that inflammation contributes to cognitive decline in the elderly. Most of the drugs administered during anaesthesia interact with the cerebral cholinergic system, which seems to be impaired with ageing. One can hypothesize that this cholinergic dysfunction is a potent factor in the pathogenesis of POCD. These findings have implications for the information provided before obtaining consent from elderly patients prior to surgery; a careful evaluation of mental status is mandatory for all elderly patients undergoing general anaesthesia. Perioperative physicians should be familiar with the prevention, diagnosis, and management of postoperative cognitive dysfunction.


Subject(s)
Cognition Disorders/physiopathology , Postoperative Complications/physiopathology , Animals , Humans , Neurosecretory Systems/physiopathology , Receptors, Cholinergic/physiology , Risk Factors
17.
PLoS One ; 3(8): e2930, 2008 Aug 13.
Article in English | MEDLINE | ID: mdl-18698373

ABSTRACT

Wnt signals exercise strong cell-biological and regenerative effects of considerable therapeutic value. There are, however, no specific Wnt agonists and no method for in vivo delivery of purified Wnt proteins. Wnts contain lipid adducts that are required for activity and we exploited this lipophilicity by packaging purified Wnt3a protein into lipid vesicles. Rather than being encapsulated, Wnts are tethered to the liposomal surface, where they enhance and sustain Wnt signaling in vitro. Molecules that effectively antagonize soluble Wnt3a protein but are ineffective against the Wnt3a signal presented by a cell in a paracrine or autocrine manner are also unable to block liposomal Wnt3a activity, suggesting that liposomal packaging mimics the biological state of active Wnts. When delivered subcutaneously, Wnt3a liposomes induce hair follicle neogenesis, demonstrating their robust biological activity in a regenerative context.


Subject(s)
Wnt Proteins/biosynthesis , Wnt Proteins/physiology , Animals , Cell Culture Techniques , Liposomes , Male , Membrane Lipids/physiology , Mice , Mice, Inbred Strains , Signal Transduction , Wnt Proteins/antagonists & inhibitors , Wnt Proteins/isolation & purification , Wnt3 Protein , Wnt3A Protein
18.
Med Mal Infect ; 37(2): 118-20, 2007 Feb.
Article in French | MEDLINE | ID: mdl-17267155

ABSTRACT

Few adverse effects have been reported with adjunctive dexamethasone treatment in pneumococcal meningitis. Nevertheless, we report a case of cerebral vasculitis. A 49-year-old man was admitted for fever and altered mental status. Lumbar puncture revealed a high inflammatory response and Streptococcus pneumoniae was identified by culture. Antibacterial therapy and adjunctive dexamethasone treatment were initiated as recommended. The immediate outcome was favorable but due to the onset of focal cerebral abnormalities, a CT scan was performed on the ninth day showing cerebral vasculitis. The patient died on the thirteenth day despite antibacterial therapy and resuscitation. In our case, a secondary neurological worsening appeared when adjunctive dexamethasone treatment was stopped suggesting a rebound effect. Observation of similar cases may lead to modifying adjunctive dexamethasone treatment protocol in bacterial meningitis.


Subject(s)
Anti-Inflammatory Agents/adverse effects , Dexamethasone/adverse effects , Meningitis, Pneumococcal/complications , Substance Withdrawal Syndrome/etiology , Vasculitis, Central Nervous System/etiology , Amoxicillin/therapeutic use , Anti-Inflammatory Agents/administration & dosage , Arthritis, Infectious/complications , Brain Edema/chemically induced , Brain Edema/etiology , Cefotaxime/therapeutic use , Chemotherapy, Adjuvant , Coma/etiology , Dexamethasone/administration & dosage , Drug Therapy, Combination , Emergencies , Encephalocele/chemically induced , Encephalocele/etiology , Fatal Outcome , Fever/etiology , Humans , Knee Joint/microbiology , Male , Meningitis, Pneumococcal/drug therapy , Middle Aged , Vancomycin/therapeutic use , Vasculitis, Central Nervous System/drug therapy
19.
Arch Mal Coeur Vaiss ; 96(7-8): 780-3, 2003.
Article in French | MEDLINE | ID: mdl-12945223

ABSTRACT

OBJECTIVE: CMA is a widespread glycoprotein located in the secretory vesicles of neuroendocrine cells and is co-released with peptides and biogenic amines into the circulation. The present study set out to investigate the clinical utility of assessing serum CGA levels in comparison with the urinary KTCO and their urinary metabolites concentrations, which are to date the gold standard validated diagnostic test. METHODS: From January 2000 to June 2001, 202 consecutive patients, aged 53 +/- 12.7, 102 males, were admitted to our department for a hypertension evaluation. Blood samples for measurements of plasma concentrations of chromogranin A were collected and serum CGA levels were quantified by RIA technique (RIACT). This radioimmunometric technique consisted in using 2 monoclonal antibodies directed to 2 specific antigenic domains of the middle portion of the CGA. The fixed threshold value for identifying positive results was, set at 100 ng/ml according to previous studies. RESULTS: No pheochomocytoma was diagnosed by conventional urinary KTCO essay. Of the 202 CGA blood samples, 32 turned out to be positive, due to commonly encountered false positive causes (inhibitor of the pump with protons, corticotherapy, hypergastrinemia, chronic renal insufficiency, respectively, in 11, 2, 1, 18 cases). The CGA plasma concentration averaged 77 +/- 77 mg/ml and 203 +/- 125 ng/ml in the CGA subgroup over the threshold value. CONCLUSION: The reliability of immunoradiometric serum CGA concentrations appeared according to this work to be comparable to that of the urinary KTCO levels and their urinary metabolites in hypertensives. Moreover, it solely requires a simple, easily done blood taking, less expensive than urinary KTCO collection. Besides, no antihypertensive drugs interfered with the analysis of CGA levels. However, some false positive results have to be mentioned in the presence of renal impairment, hypergastrinemia, corticotherapy, inhibitor of the pump with protons.


Subject(s)
Adrenal Gland Neoplasms/diagnosis , Biomarkers, Tumor/blood , Chromogranins/blood , Hypertension/complications , Pheochromocytoma/diagnosis , Adult , Aged , Antihypertensive Agents/pharmacology , Catecholamines/urine , Chromogranin A , Enzyme Inhibitors/pharmacology , False Positive Reactions , Female , Humans , Kidney Diseases/complications , Male , Middle Aged , Proton Pumps , Sensitivity and Specificity
20.
Arch Mal Coeur Vaiss ; 95(4): 310-2, 2002 Apr.
Article in French | MEDLINE | ID: mdl-12055772

ABSTRACT

This clinical case illustrates the diagnosis of a secondary cause of hypertension in a patient with Von Recklinghausen's disease. The hypertension resulted from a complex malformation of the right renal artery and dysplasic stenosis of the left inferior polar artery treated successfully by simple angioplasty. This case illustrates the high proportion of vascular (renal artery dysplasia, coarctation of the aorta) and endocrine (pheochromocytoma) causes of hypertension in patients with neurofibromatosis.


Subject(s)
Hypertension, Renovascular/etiology , Neurofibromatosis 1/complications , Adult , Angioplasty, Balloon , Humans , Hypertension, Renovascular/therapy , Kidney Cortex/pathology , Male
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