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2.
Rev Mal Respir ; 41(6): 439-445, 2024 Jun.
Article in French | MEDLINE | ID: mdl-38760314

ABSTRACT

INTRODUCTION: Cystic lung diseases are rare, with numerous differential diagnoses. Iconographic discovery consequently necessitates medical examinations in view of proposing an etiological orientation. CASE REPORT: A 57-year-old woman consulted in pulmonology following fortuitous detection of a cystic lung disease on an abdominal CT scan. Complementary medical examinations did not allow orientation towards a particular diagnosis. During a follow-up consultation, the patient informed her pulmonologist of the recent detection of a monoallelic variant of a FAT4 gene in one of her daughters, who was suffering from edema of the lower limbs secondary to a disease of the lymphatic system. As our patient had a similar history, she likewise received a genetic analysis. A monoallelic variant not described in the genetic databases was observed, and considered as a probable pathogenic variant (class 4/5 on the pathogenicity scale of genetic variants). CONCLUSION: After analyzing the available literature data, we raise questions about a possible link between this variant of the FAT4 gene, chronic lymphedema and our patient's cystic lung disease.


Subject(s)
Lung Diseases , Humans , Female , Middle Aged , Lung Diseases/genetics , Lung Diseases/diagnosis , Genetic Variation , Cysts/genetics , Cysts/diagnosis , Lymphedema/genetics , Lymphedema/diagnosis , Diagnosis, Differential
3.
Soins ; 68(880): 33-35, 2023 Nov.
Article in French | MEDLINE | ID: mdl-37931995

ABSTRACT

The occurrence of cutaneous squamous cell carcinoma is a frequent and potentially serious complication in people with recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa with chronic leg sores. Early diagnosis of early-stage carcinomas enables limited surgical excision and rapid healing without sequelae. Screening during skin care of patients at risk is therefore of major interest, and any atypical lesion should be shown to a doctor specializing in the disease and biopsied at the slightest doubt, preferably in an expert center for the disease.


Subject(s)
Carcinoma, Squamous Cell , Epidermolysis Bullosa Dystrophica , Epidermolysis Bullosa, Junctional , Skin Neoplasms , Humans , Carcinoma, Squamous Cell/etiology , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/surgery , Skin Neoplasms/etiology , Skin Neoplasms/pathology , Skin Neoplasms/surgery , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Dystrophica/pathology , Epidermolysis Bullosa, Junctional/complications , Epidermolysis Bullosa, Junctional/pathology
4.
Rev Med Interne ; 44(12): 662-669, 2023 Dec.
Article in French | MEDLINE | ID: mdl-37248110

ABSTRACT

Chronic fatigue is a frequent complaint, expressed at all levels of the healthcare system. It is perceived as disabling in a high proportion of cases, and internists are frequently called upon to find "the" cause. The etiological diagnostic approach of an unexplained state of fatigue relies on the careful search for more specific clues by questioning and clinical examination. It is necessary to recognize the limited place of complementary examinations apart from the basic biological parameters. Simple rating scales can be useful in the etiological and differential diagnosis of fatigue. Chronic fatigue syndrome (CFS), in the current state of knowledge, cannot be considered as a specific pathological entity distinct from idiopathic chronic fatigue states, and does not have validated biomarkers. It is important to know that a state of chronic asthenia often results from several intricated etiological factors (biological, psychological and social), to be classified as predisposing, precipitating and perpetuating. The metabolic and cardiorespiratory exercise test has a major place in the assessment and management of fatigue, as a prerequisite for personalized retraining or adapted physical activity (APA), which are the treatments of choice for chronic fatigue.


Subject(s)
Fatigue Syndrome, Chronic , Humans , Fatigue Syndrome, Chronic/diagnosis , Fatigue Syndrome, Chronic/epidemiology , Fatigue Syndrome, Chronic/etiology , Depression/psychology , Exercise , Diagnosis, Differential , Asthenia/diagnosis
5.
J Fr Ophtalmol ; 46(5): 495-500, 2023 May.
Article in English | MEDLINE | ID: mdl-36759243

ABSTRACT

PURPOSE: To explore the clinical characteristics, imaging features, and differential diagnosis of periocular pilomatrixoma in children and provide evidence for clinical diagnosis and treatment. METHODS: Retrospective analysis of the clinical characteristics, preliminary diagnosis, imaging features, treatment, and follow-up of the cases of pediatric periocular pilomatrixoma treated at our hospital. RESULTS: A total of 59 patients from 4 months to 13 years of age (median age 4 years) were collected; 18 cases (30.51%) were misdiagnosed as other diseases in preliminary diagnoses. Seven cases underwent computed tomography (CT) examination, with CT value ranging from 63.4 Hounsfield Units (HU) to 952.0 HU (median value 151.0 HU). Six cases underwent magnetic resonance imaging (MRI) examination; two patients underwent an enhanced scan. The results showed that the rim of the lesion was enhanced, but the contents were not enhanced. All patients underwent surgical treatment. No recurrence was found from 1 month to 5 years of follow-up. CONCLUSIONS: Periocular pilomatrixoma is a relatively common tumor in children, which can easily be misdiagnosed clinically as other diseases, such as sebaceous and dermoid cysts. Although not generally recommended, CT can be of significant value in the diagnosis of pilomatrixoma. MRI is of little value in the diagnosis of this disease. If CT images show high or density, the possibility of pilomatrixoma should be considered.


Subject(s)
Hair Diseases , Pilomatrixoma , Skin Neoplasms , Child , Humans , Child, Preschool , Pilomatrixoma/diagnosis , Pilomatrixoma/surgery , Pilomatrixoma/pathology , Skin Neoplasms/pathology , Diagnosis, Differential , Retrospective Studies , Hair Diseases/diagnosis , Hair Diseases/surgery , Hair Diseases/pathology , Tomography, X-Ray Computed
6.
Ann Pathol ; 43(5): 407-411, 2023 Sep.
Article in French | MEDLINE | ID: mdl-36822899

ABSTRACT

Bone metastases of hepatocellular carcinoma (HCC) are rare and disease-revealing bone metastasis are exceptional. Here, we report the case of a 69-year-old man with a cervical vertebral metastasis of hepatocellular carcinoma. Morphological aspect of a metastatic tumor with eosinophilic and polygonal cells raises the question of the differential diagnosis between a localization of a hepatocellular carcinoma or an hepatoid carcinoma, notably when the metastasis is the first clinical manifestation. The morphological aspect by itself does not provide strong enough arguments for diagnosis. Well selected immunohistochemical markers can sometimes help to orientate towards one of the two hypotheses, in particular SALL4 and LIN28 which are in favour of hepatoid carcinoma when both are positive. Finally, as these two entities have different molecular profiles, molecular study can also be helpful to distinguish them. Indeed, HCCs often present TERT promoter, CTNNB1 mutations and IL-6/JAK/STAT pathway activation while hepatoid adenocarcinoma frequently presents chromosome 20 long arm gain. TP53 mutations are found in both entities and are therefore not discriminating. Differential diagnosis is important because the treatment will be that of the primary. Prognostic data for HCC revealed by bone metastasis are scarce, although they seem to be associated with a poor prognosis, with a 1 to 2 months overall survival. There is currently no data for hepatoid adenocarcinoma with bone metastasis.


Subject(s)
Adenocarcinoma , Carcinoma, Hepatocellular , Liver Neoplasms , Stomach Neoplasms , Male , Humans , Aged , Carcinoma, Hepatocellular/diagnosis , Carcinoma, Hepatocellular/metabolism , Carcinoma, Hepatocellular/pathology , Liver Neoplasms/secondary , Janus Kinases/metabolism , Biomarkers, Tumor/metabolism , Stomach Neoplasms/pathology , Immunohistochemistry , STAT Transcription Factors/metabolism , Signal Transduction , Adenocarcinoma/pathology , Diagnosis, Differential
8.
Gynecol Obstet Fertil Senol ; 49(5): 329-334, 2021 05.
Article in French | MEDLINE | ID: mdl-33840610

ABSTRACT

Hormone replacement therapy (HRT) significantly decreases the frequency and intensity of vasomotor symptoms (VMS). It is recommended to evaluate clinical efficacy of HRT on VMS. The absence of reduction in VMS after adaptation of the modalities of the HRT suggests the possibility of atypical VMS. They should be evoked in the following clinical circumstances: when they do not give way with an adapted HRT (compliance and good use); when they appear or reappear long after menopause; when there are changes to the usual VMS; when they are associated with other functional signs. A first and second-line assessment is offered, after an interview and a detailed clinical examination, which will guide further explorations. The treatment is above all etiological when the results are positive. When the results are negative, an adaptation of the HRT can be proposed.


Subject(s)
Hot Flashes , Postmenopause , Diagnosis, Differential , Estrogen Replacement Therapy , Female , Hot Flashes/drug therapy , Hot Flashes/therapy , Humans , Menopause
9.
Rev Med Interne ; 41(7): 469-474, 2020 Jul.
Article in French | MEDLINE | ID: mdl-32718708

ABSTRACT

Small vessel disease of the brain is commonly identified among ageing people. It causes almost 25% of strokes and is associated with cognitive impairment and dementia as well as gait difficulties. Its diagnosis is usually made on MRI in the presence of deep white matter and basal ganglia hyperintensities as well as deep lacunar infarcts (lacunes), microbleeds and enlarged perivascular spaces. MRI is also of importance to identify the main differential diagnoses including inflammatory disorders, cerebral amyloid angiopathy and other genetic causes of microangiopathy. Small vessel disease is associated with the main vascular risk factors including notably age and hypertension but whether controlling these vascular risk factors is beneficial is still not clear. Here, we provide a comprehensive review underlining the main diagnostic features of cerebral microangiopathy and summarise the main therapeutic approaches (notably blood pressure normalisation and physical activity) used to control its development and prevent strokes as well as the development of cognitive involvement and gait impairment.


Subject(s)
Cerebral Small Vessel Diseases/diagnosis , Cerebral Small Vessel Diseases/therapy , Brain/diagnostic imaging , Brain/pathology , Brain/physiopathology , Cerebral Small Vessel Diseases/epidemiology , Cerebral Small Vessel Diseases/etiology , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/etiology , Cognitive Dysfunction/therapy , Humans , Magnetic Resonance Imaging , Stroke/diagnosis , Stroke/etiology , Stroke/therapy
10.
Encephale ; 46(2): 88-95, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31522836

ABSTRACT

BACKGROUND: Non-invasive brain stimulation techniques are becoming a part of psychiatrists' therapeutic arsenal. Proof of TMS effectiveness and its indications are becoming clearer. While international recommendations exist, and many countries have already recognized the use of these techniques, the French situation is peculiar since no recommendation has been published by the High Authority of Health. Consequently, those techniques are not reimbursed by the healthcare service, few practitioners are trained, some are criticized for using it, and practices remain very heterogeneous. It is therefore important to investigate what slows down the development of these techniques. The objective of this study was to determine the acceptability of TMS by psychiatrists and to analyze the factors influencing it. METHOD: A sample of psychiatrists was recruited in order to complete an online quantitative acceptability study using a four variable domain model (utility, intention of use, facility, risk) allowing an acceptability score calculation. RESULT: Four hundreds and seventy-six observations were included in the analysis. Regarding the main objective, the overall TMS acceptability score was high for 47.2% of psychiatrists, average for 40.6% and low for 12.1% of them. The main factors influencing it were theoretical orientation (psychoanalytic vs neurobiological) and training level (only one in three psychiatrists acknowledge having been trained in this technique). DISCUSSION: The majority of practitioners consider TMS to be a credible alternative to current therapies, especially for depressive disorders. Yet psychiatrists are uninformed and poorly trained in these techniques and report very clearly a desire for more training and information. Our study highlights a significant lack of training that negatively impacts the accessibility of these techniques.


Subject(s)
Health Knowledge, Attitudes, Practice , Psychiatry , Transcranial Magnetic Stimulation , Adult , Aged , Depressive Disorder/therapy , Female , France , Health Services Accessibility , Humans , Male , Mental Disorders/therapy , Middle Aged , Observation , Psychiatry/education , Psychoanalytic Theory , Socioeconomic Factors , Surveys and Questionnaires
11.
Encephale ; 45(5): 441-448, 2019 Nov.
Article in French | MEDLINE | ID: mdl-31495549

ABSTRACT

INTRODUCTION: Current developments in international public health are leading qualified authorities to release clinical practice guidelines for Autism Spectrum Disorders (ASD) assessment and diagnosis. Such documents incorporate procedures that rely on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) which are considered to be the "gold standard" assessment measures in the evaluation of ASD. Although these tools do prove their effectiveness in the evaluation of autistic symptomatology, they nevertheless stumble whenever the situation becomes more complex and reveal differential diagnostic issues in infantile and adult autism cases. This differential diagnostic issue remains significant in the clinical practice of daily life and has strong implications for the course of therapeutic treatment. OBJECTIVES: Our objective is to underline and nuance the metrological qualities of the ADI-R and the ADOS in the differential diagnosis of autistic disorders by presenting a synthesis of recent studies, thus supporting the interest of maintaining an open debate on diagnostic practices. METHODS: Our selective review of the recent literature focuses on studies that confront the ADI-R and the ADOS - used either independently or in a combination - with various differential issues in adulthood and childhood autism in order to highlight their qualities and limits. RESULTS: The ADI-R is a semi-structured interview applied by trained examiners and applied to relatives and/or caregivers who collect developmental information about the patient's first years of life on a variety of behaviors and skills. It is therefore relatively dependent on the availability and personal bias of the interviewed third parties. Metric features highlighted by the reviewed studies straightforwardly reveal a certain effectiveness of the tool and a good discrimination of childhood disorders. At the same time, the tool's discriminatory capacity seems insufficient when applied to toddlers, very young children, and adults alike. The latter seems particularly true when it comes to differentiating between autistic and schizophrenic spectrum disorders. The ADOS is a semi-structured standardized observation assessment tool that has experienced several successive developments, such as optimizations concerning the sensitivity of its cutoffs. Many works have contributed to building such a tool with reliable and solid metric qualities which nevertheless retain important biases such as the subjectivity of the caregiver or the evaluator during the scoring process. For assessments of autistic children the tool still has a good diagnostic validity but seems to retain cases of incorrect diagnosis of ASD (false positives). In other words, disorders or developmental disabilities of some children and adolescents could not be distinguished from ASD when relying on this test alone. The ADOS Module 4, designed for the diagnosis of adolescents and adults with fluent speech, has undergone less updating. This revisited algorithm has metrological qualities useful for clinicians and remains one of the few available tools for this population. Unfortunately, its diagnostic accuracy is lower when applied to women, the elderly, people with personality disorders or higher intellectual abilities, or for the discrimination between ASD and schizophrenia. Overall, scores from these two instruments bring strong evidence of their usefulness in the diagnostic process of ASD, provided that they are used with caution and a critical clinical perspective, and only as a secondary technical support. Their use in combination is effective since they are complementary and compensate for each other's limitations. However, their globalized hegemony as "gold-standard" tools constitutes a setback insofar as it constrains the diagnosis of ASD to a set of stereotyped items. The latter in turn sets a normative model of autism that excludes other phenotypic forms, especially in the case of women and the elderly. Finally, the discrimination between autism and psychosis for children seems to remain an insoluble task even for the ADI-R/ADOS combination. CONCLUSIONS: The problematics of differential diagnosis remain critical for clinical approaches to autism. Therefore, formalizations of the diagnostic procedures must be able to remain open-minded and accompanied by a creative clinical approach, especially in the case of complex situations that are not soluble by means of conventional diagnostic tools. One possibility may lie in the deepening of the phenomenological approach to autism as an attempt to model the subjective phenomena of autistic subjects and thus operationalize elements that serve the diagnostic process. In the same way, a psychodynamic epistemology could help clinicians to go beyond the consideration of observable behaviors and scores, introducing a psychoanalytic point of view that interfaces objective behaviors with the individual's dynamic intrapsychic functioning. This project could be articulated with projective methodologies - notably the Rorschach test - which respects the needs for standardization and quantification of conventionally used diagnostic tools.


Subject(s)
Autism Spectrum Disorder/diagnosis , Psychological Tests/statistics & numerical data , Adult , Autism Spectrum Disorder/classification , Autism Spectrum Disorder/psychology , Autism Spectrum Disorder/therapy , Child , Diagnosis, Differential , France , Humans , Prognosis , Psychometrics , Reproducibility of Results
12.
Rev Med Interne ; 40(2): 112-116, 2019 Feb.
Article in French | MEDLINE | ID: mdl-30174111

ABSTRACT

INTRODUCTION: Olmesartan is an angiotensin II receptor blocker, used to treat arterial hypertension. Severe digestive manifestations have been associated with olmesartan, including sprue-like enteropathy and lymphocytic colitis. OBSERVATIONS: We report two cases of sprue-like enteropathy associated with olmesartan, leading to malabsorption syndrome related to villous atrophy. After olmesartan discontinuation, patients exhibited resolution of clinical digestive symptoms and disappearance of biochemical abnormalities. CONCLUSION: Our case reports underscore that accurate questioning is crucial in diagnostic approach, allowing to make the diagnosis of sprue-like enteropathy related to olmesartan in our patients. Interestingly, particular attention has recently been drawn to the fact that sprue-like disease may be a class effect of angiotensin II receptor blockers; further investigations are warranted to confirm these latter data.


Subject(s)
Imidazoles/adverse effects , Intestinal Diseases/chemically induced , Tetrazoles/adverse effects , Aged , Celiac Disease/chemically induced , Celiac Disease/complications , Female , Humans , Intestinal Diseases/complications , Malabsorption Syndromes/chemically induced
13.
Rev. Subj. (Impr.) ; 18(2): 80-92, maio-ago. 2018. ilus, graf
Article in Portuguese | LILACS | ID: biblio-990491

ABSTRACT

A depressão é atualmente um dos assuntos mais difundidos na sociedade. Trata-se de um quadro clínico que acomete milhões de pessoas no mundo inteiro todos os anos e seu diagnóstico é cada vez mais frequente. Nessa perspectiva, ela é tratada como um problema do campo médico e sua etiologia estaria associada à uma desordem neuroquímica. A psicanálise propõe outra alternativa que vai além da perspectiva biomédica. Nesse sentido, nos amparamos no ensino de Lacan e realizamos uma articulação precisa entre a tristeza e o desejo. Dessa maneira os estados depressivos seriam na verdade uma consequência da desorientação do sujeito em relação ao seu desejo. Essa direção se mostra precisa, pois nos fornece elementos para pensarmos o diagnóstico diferencial de melancolia e os estados depressivos que se apresentam sob esse quadro. Trata-se de uma situação em que ocorre o apagamento do desejo do sujeito em função da sua identificação com o objeto perdido. Essa perspectiva também nos permite pensar a depressão neurótica e situá-la como um recuo do sujeito diante do seu desejo que é suscitado pelo Outro. Por fim, a psicanálise nos mostra que a depressão enquanto entidade clínica não existe. Nessas coordenadas, os estados depressivos traduzem sempre uma posição do sujeito diante do objeto, que deve sempre ser analisada a partir da lógica pulsional.


Depression is currently one of the most widespread issues in society. It is a clinical picture that affects millions of people worldwide every year and its diagnosis is increasingly frequent. In this perspective, it is treated as a medical field problem and its etiology would be associated with a neuro-chemical disorder. Psychoanalysis proposes another alternative that goes beyond the biomedical perspective. In this sense, we rely on the teaching of Lacan and make a precise articulation between sadness and desire. In this way depressive states would in fact be a consequence of the subject disorientation in relation to his desire. This direction is precise, as it provides us with elements to think about the differential diagnosis of melancholia and the depressive states that appear under this condition. It is a situation in which the desire of the subject is erased due to its identification with the lost object. This perspective also allows us to think of neurotic depression and situate it as a retreat from the subject before his desire that is raised by the Other. Finally, psychoanalysis shows us that depression as a clinical entity does not exist. In these coordinates, depressive states always translate a position of the subject before the object, which must always be analyzed from the drive logic.


La depresión actualmente es uno de los temas más difundidos en la sociedad. Es un cuadro clínico que millones de personas sufren en todo el mundo todos los años y su diagnóstico es cada día más frecuente. Bajo esa perspectiva, ella es tratada como un problema del campo médico, y su etiología estaría relacionada a un desorden neuroquímico. El psicoanálisis propone otra opción que va más allá de la perspectiva biomédica. En este sentido, tomamos por base la enseñanza de Lacan y realizamos una articulación precisa entre la tristeza y el deseo. De esa manera los estados depresivos serían, en verdad, una consecuencia de la desorientación del sujeto en relación a su deseo. Ese rumbo se presenta enfocado, dándonos elementos para pensar el diagnóstico deferencial de melancolía y los estados depresivos que se presentan bajo ese cuadro. Es una situación en la que ocurre la supresión del deseo del sujeto en función de su identificación con el objeto perdido. Esa perspectiva también nos permite pensar la depresión neurótica y ubicarla como un retroceso del sujeto ante su deseo que es provocado por el Otro. Por fin, el psicoanálisis nos muestra que la depresión mientras entidad clínica no existe. En estas coordenadas, los estados depresivos siempre traducen una posición del sujeto ante el objeto, que debe ser siempre analizada a partir de la lógica pulsional.


La dépression est actuellement l'un des problèmes les plus diffusés dans la société. C'est un tableau clinique qui touche des millions de personnes dans le monde entier et dont le diagnostic est de plus en plus fréquent à chaque année. Dans cette perspective, elle est traitée comme un problème médical et sa cause pourrait être associée à un trouble neurochimique. La psychanalyse propose une autre alternative qui dépasse la perspective biomédicale. En ce sens, on s'appuie sur l'enseignement de Lacan et on a fait une articulation précise entre la tristesse et le désir. De cette manière, les états dépressifs seraient en réalité une conséquence de la désorientation du sujet par rapport à son désir. Cette direction se montre précise car elle fournit des éléments de réflexion sur le diagnostic différentiel de la mélancolie et des états dépressifs qui apparaissent sous ce tableau clinique. Il s'agit d'une situation dans laquelle il y a l'effacement du désir du sujet à cause de son identification avec l'objet perdu. Cette perspective permet aussi de penser à la dépression névrotique, bien comme de la situer comme un retrait du sujet avant son désir, qui est suscité par l'Autre. Finalement, la psychanalyse montre que la dépression en tant qu'entité clinique n'existe pas. Dans ces coordonnées, les états dépressifs traduisent toujours une position du sujet devant l'objet, qui doit toujours être analysée à partir de la logique instinctif.

14.
Ann Endocrinol (Paris) ; 79(2): 75-81, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29525561

ABSTRACT

Ectopic adrenal adenoma causing chronic Cushing's syndrome (CS) is a rare phenomenon. Diagnosis is usually made years after disease onset because of the insidious nature of the ectopic adrenal gland and because it overlaps with common symptoms, such as overweight and hypertension, in the general population (Kreitschmann-Andermahr et al., 2015). Here, we report the case of a 46-year-old male with a 15-year history of severe hypertension, facial plethora, and centripetal obesity. During treatment for herpes zoster, the patient presented with severe hypokalemia and flaccid paralysis, characteristic changes associated with CS. The serum cortisol level was elevated and baseline adrenocorticotrophic hormone (ACTH) was suppressed. After administration of the low-dose overnight dexamethasone suppression test, plasma cortisol was 38.9µg/dL. A contrast computed tomography (CT) scan revealed normal adrenal glands and significant tumor adjacent to the right renal hilum measuring ∼3.6×2.3cm. The tumor was removed through retroperitoneoscopy, and pathological examination confirmed adrenocortical adenoma and myelolipoma metaplasia. The serum potassium level gradually became normal after surgical removal of the mass. In the current report, we have reviewed the pertinent literature and highlighted the importance of considering ectopic adrenal adenoma in the differential diagnosis of chronic CS with nonspecific symptoms.


Subject(s)
Adenoma/metabolism , Adrenal Gland Neoplasms/metabolism , Adenoma/complications , Adenoma/diagnostic imaging , Adrenal Gland Neoplasms/complications , Adrenal Gland Neoplasms/diagnostic imaging , Adrenal Glands , Adrenalectomy , Adrenocorticotropic Hormone/blood , Choristoma , Cushing Syndrome/diagnostic imaging , Cushing Syndrome/etiology , Cushing Syndrome/metabolism , Dexamethasone/pharmacology , Humans , Hydrocortisone/blood , Male , Middle Aged , Tomography, X-Ray Computed
15.
Rev Mal Respir ; 35(1): 83-87, 2018 Jan.
Article in French | MEDLINE | ID: mdl-29402641

ABSTRACT

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is a common condition that may initially look simple but may conceal other diseases capable of accelerating its natural history or even simulating it. We describe four cases presenting as COPD with emphysema that were reclassified on the basis of certain clinical characteristics and the radiological pattern. CASE REPORTS: A 52 year old never smoking woman presenting with emphysema was eventually diagnosed as having lymphangioleiomyomatosis on the basis of an abdominal CT scan showing kidney angiomyolipomas. A 44 years old smoker presenting with rapidly evolving emphysema was eventually diagnosed as having Langerhans cell histiocytosis on the basis of a previous chest CT (four years earlier) showing cavitating nodules. An airport refueler, 73 years old, with severe emphysema despite never having smoked, was eventually diagnosed as suffering from alpha-1 antitrypsin deficiency. The last patient was a 54 year old man, a never smoker, who presented with severe airflow limitation and multilobar hyperlucency, with bronchiectasis in the same areas. He was eventually diagnosed as having a severe form of the Swyer-James-MacLeod syndrome. CONCLUSION: These four case reports underline the importance of questioning the diagnosis of COPD when certain particular phenotypic characteristics are identified.


Subject(s)
Histiocytosis, Langerhans-Cell/diagnosis , Lung Neoplasms/diagnosis , Lung, Hyperlucent/diagnosis , Lymphangioleiomyomatosis/diagnosis , Pulmonary Emphysema/diagnosis , alpha 1-Antitrypsin Deficiency/diagnosis , Adult , Aged , Bronchiectasis/complications , Bronchiectasis/diagnosis , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Emphysema/complications
16.
Ann Pathol ; 38(2): 126-130, 2018 Apr.
Article in French | MEDLINE | ID: mdl-29449046

ABSTRACT

Chordoma cutis represents an unusual clinical presentation of a rare neoplasm. The involvement of skin or sub-cutaneous soft tissues can be the consequence of local infiltration or metastasis; the latter may occur several years following the initial diagnosis of chordoma and therefore, may pose a diagnosis challenge when the clinical history of the patient is unknown. The clinical forms, morphology, immuno-histochemical profile and the main differential diagnoses of chordoma cutis are presented here through an anatomoclinical case.


Subject(s)
Chordoma/diagnosis , Neoplasm Recurrence, Local/diagnosis , Skin Neoplasms/diagnosis , Aged, 80 and over , Antineoplastic Agents/therapeutic use , Biomarkers, Tumor , Chordoma/diagnostic imaging , Chordoma/pathology , Chordoma/therapy , Combined Modality Therapy , Contraindications, Procedure , Humans , Imatinib Mesylate/therapeutic use , Magnetic Resonance Imaging , Male , Neoplasm Recurrence, Local/diagnostic imaging , Neoplasm Recurrence, Local/drug therapy , Neoplasm Recurrence, Local/pathology , Paraplegia/complications , Radiotherapy, Adjuvant , Sacrococcygeal Region , Skin Neoplasms/diagnostic imaging , Skin Neoplasms/drug therapy , Skin Neoplasms/pathology , Skin Ulcer/etiology , Soft Tissue Neoplasms/pathology , Soft Tissue Neoplasms/radiotherapy , Soft Tissue Neoplasms/surgery
17.
Can J Aging ; 37(1): 50-59, 2018 03.
Article in English | MEDLINE | ID: mdl-29265994

ABSTRACT

Primary progressive apraxia of speech (PPAoS) is a neurodegenerative syndrome characterized by speech apraxia at its onset; as it progresses, it often evolves into total mutism. Even though this syndrome is increasingly recognized, its early differential diagnostic is still complex. The objective of this study was to illustrate why a fine evaluation of speech and language is essential for the differential diagnosis of PPAoS. This longitudinal case study presents the progression of a PPAoS patient over a period of 5 years. Periodic neurological and speech-language assessments were carried out to follow the progression of neurological, memory, language and speech symptoms. The different diagnostic labels established over time were also reported. The evolution of the patient's communication profile was characterized by a preservation of language components and episodic memory, in parallel with a progressive deterioration of speech which gradually reduced intelligibility, and was associated with signs of spasticity, resulting in a complete anarthria. This case study sheds light upon the evolution of a patient with PPAoS. A better understanding of the clinical profile and progression of PPAoS is necessary in order to improve early diagnosis and adequate care for these patients.


Subject(s)
Apraxias/diagnosis , Early Diagnosis , Language Disorders/diagnosis , Communication , Disease Progression , Humans , Speech Disorders/diagnosis
18.
Encephale ; 44(6S): S8-S11, 2018 Dec.
Article in French | MEDLINE | ID: mdl-30935493

ABSTRACT

Very early onset schizophrenia begins before the age of 13. This form of schizophrenia is particularly difficult to diagnose. The differential diagnosis is difficult because some psychotic signs can be passing or be representative of an anxious or depressive disorder. The differential diagnosis with the autistic spectrum disorder is also complex. Finally, other disorders are associated in the majority of the cases. It is a neurodevelopmental disorder with premature cerebral anomalies engendered by the interaction of genetic factors and environmental factors. There seems be a real continuity between the very early form and the adult form although very early onset schizophrenia is a severe form of the disorder which carries a relatively poor prognosis. Its outcome depends both on early screening, the quality of diagnosis and on the speed of multidisciplinary interventions offered.


Subject(s)
Schizophrenia/diagnosis , Schizophrenia/epidemiology , Adolescent , Adult , Age of Onset , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/pathology , Autism Spectrum Disorder/psychology , Child , Diagnosis, Differential , Humans , Neurodevelopmental Disorders/diagnosis , Neurodevelopmental Disorders/epidemiology , Neurodevelopmental Disorders/pathology , Prodromal Symptoms , Schizophrenia/pathology , Schizophrenic Psychology
19.
Encephale ; 44(1): 52-58, 2018 Feb.
Article in French | MEDLINE | ID: mdl-28434642

ABSTRACT

INTRODUCTION: Depression and Alzheimer's disease are both very frequent in elderly people. Cognitive deficits are the hallmark of Alzheimer's disease, but they are also common in depressed elderly people who often present cognitive deficits such as memory, attention and executive function problems. On the other hand, people with early Alzheimer's disease demonstrate emotional and behavioral disorders generally encountered in depression such as loss of energy, apathy, mood disorder, and irritability. Thus, in older adults with depression, the presence of cognitive deficits can make it difficult to distinguish cognitive decline that is associated with a depressive illness and the decline encountered in Alzheimer's disease because the clinical picture of the two disorders are similar. However, early distinction between the two disorders is very important from a prognostic and therapeutical point of view. OBJECTIVE: After a brief description of the relationship between depression and early Alzheimer's disease in elderly people, this paper aims to present an updated literature review of data on differential diagnoses between these disorders. METHOD: We performed a non-systematical, yet as exhaustive as possible, literature search with Pubmed electronic database, screening studies from 2000 to 2016. RESULTS: The majority of the studies concerned cognitive aspects, but only a few studies investigated others markers such as cerebral imaging, electroencephalography, cerebrospinal fluid markers. At the neuropsychological examination, a detailed analysis of the mnesic profile revealed a better benefit of semantic cueing in patients with late life depression in comparison to those with prodromal Alzheimer's disease and better performances in recognition memory. Moreover, longitudinal follow-up of patients with depression indicated that deficits in delayed recall memory, but not in executive functions, were associated with the subsequent development of Alzheimer's disease. Several studies showed that tests of executive functions could not differentiate between patients with late life depression and patients with prodromal Alzheimer's disease. A measure of global cognitive decline does not seem to be helpful in differentiating early Alzheimer's disease and depression, unlike an analysis of the neuropsychological profile on several composite scales, such as the Mini Mental State Examination. Furthermore, recent work has investigated the utility of olfactory or gustative markers with promising results and convenient tools for clinical practice. Concerning morphological brain imaging, only detailed volumetric analysis could show differences between the two diseases, but these techniques are not always available for clinical practice. It is the same for other recent techniques, such as quantitative electroencephalography, Near InfraRed Spectroscopy, Single Photon Emission Computed Tomography, or Transcranial Doppler Ultrasonography, which have received little attention so far as differential diagnostic tools. Finally, cerebrospinal fluid analysis could be useful, including beta amyloid levels. CONCLUSION: Despite numerous efforts in recent years, differential diagnosis of dementia from depression in the elderly remains difficult. Results of this review highlight the necessity of conducting more research in this area, with multi-method studies, using not only cognitive analysis but also cerebral imaging techniques.


Subject(s)
Alzheimer Disease/psychology , Depression/psychology , Prodromal Symptoms , Aged , Aged, 80 and over , Cognition Disorders/psychology , Diagnosis, Differential , Female , Humans , Male
20.
Rev. Subj. (Impr.) ; 17(2): 32-40, maio-ago. 2017.
Article in Portuguese | LILACS | ID: biblio-990450

ABSTRACT

Este trabalho surge do retorno à teoria psicanalítica pelo método de diagnóstica não-toda. Ensejamos nos aproximar do que resiste à teorização, questionando os seus limites para regressar à prática clínica e produzir novas respostas acerca da noção do real na própria teoria da constituição do sujeito. Em termos metapsicológicos, podemos observar três dimensões de construção teórica sobre a constituição do sujeito: (1) as estruturas ontológicas, como o Real, o Simbólico e o Imaginário, em sua lógica de trançamento - aspecto topológico; (2) as estruturas antropológicas, como metáfora paterna, falo e significante em sua perspectiva estrutural - aspecto dinâmico; e (3) a noção de objeto a e as posições discursivas que permitem a passagem entre as estruturas ontológicas e antropológicas - aspecto econômico. Apresentamos as construções dinâmicas e topológicas sobre a constituição do sujeito e questionamos a ausência de trabalhos acerca do aspecto econômico.


This work comes from the return to psychoanalytic theory by the non-whole diagnostic method. We aim to approach of what resists theorizing, questioning its limits to return to clinical practice and to produce new answers about the notion of the real in the theory of the constitution of the subject. In metapsychological terms, we can observe three dimensions of theoretical construction on the constitution of the subject: (1) the ontological structures, such as the Real, the Symbolic and the Imaginary, in their braid logic - topological aspect; (2) anthropological structures, as a paternal metaphor, phallus and signifier in its structural perspective - dynamic aspect, and (3) the notion of object a and the discursive positions that allow the passage between the ontological and anthropological structures - economic aspect. We present the dynamic and topological constructions on the constitution of the subject and question the absence of works on the economic aspect.


Este trabajo surge del regreso a la teoría psicoanalítica por el método de diagnóstico no-toda. Deseamos acercarnos a lo que resiste a la teorización, cuestionando sus límites para regresar a la práctica clínica y producir nuevas respuestas acerca de la noción del real en la propia teoría de la constitución del sujeto. En términos metapsicológicos, podemos observar tres dimensiones de construcción teórica sobre la constitución del sujeto: (1) las estructuras ontológicas, como el Real, el Simbólico y el Imaginario, en su lógica de trenzado - aspecto topológico; (2) las estructuras antropológicas, como metáfora paterna, falo y significante en su perspectiva estructural - aspecto dinámico; y (3) la noción de objeto y las posiciones discursivas que permiten el pasaje entre las estructuras ontológicas y antropológicas - aspecto económico. Presentamos las construcciones dinámicas y topológicas sobre la constitución del sujeto y cuestionamos la ausencia de trabajos acerca del aspecto económico.


Ce travail vient du retour à la théorie psychanalytique par la méthode de diagnostique pas-tout. On cherche s'approcher de ce qui résiste à la théorisation, en interrogeant ses limites pour retourner à la pratique clinique et produire des nouvelles réponses concernant la notion du Réel dans la théorie de la constitution du sujet. En termes metapsychologiques, on peut observer trois dimensions de la construction théorique sur la Constitution du sujet: (1) les structures ontologiques comme le Réel, le Symbolique et l'Imaginaire, dans sa logique de torsion - l'aspect topologique; (2) les structures anthropologiques comme la métaphore paternelle, le phallus et le signifiant dans sa perspective structurelle - l'aspect dynamique; et (3) le concept de l'objet et les positions discursives qui permettent le passage entre les structures ontologiques et anthropologiques - l'aspect économique. On présente les constructions dynamiques et topologiques sur la constitution du sujet et on remise en question l'absence d'études concernant l'aspect économique.

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