RESUMEN
Background: Chronic lymphocytic leukemia (CLL) has a heterogeneous clinical course. Beside patients requiring immediate treatment, others show an initial indolent phase followed by progression and others do not progress for decades. The latter two subgroups usually display mutated IGHV genes and a favorable FISH profile. Patients and methods: Patients with absence of disease progression for over 10 years (10-34) from diagnosis were defined as ultra-stable CLL (US-CLL). Forty US-CLL underwent extensive characterization including whole exome sequencing (WES), ultra-deep sequencing and copy number aberration (CNA) analysis to define their unexplored genetic landscape. Microarray analysis, comparing US-CLL with non-US-CLL with similar immunogenetic features (mutated IGHV/favorable FISH), was also carried out to recognize US-CLL at diagnosis. Results: WES was carried out in 20 US-CLL and 84 non-silent somatic mutations in 78 genes were found. When re-tested in a validation cohort of 20 further US-CLL, no recurrent lesion was identified. No clonal mutations of NOTCH1, BIRC3, SF3B1 and TP53 were found, including ATM and other potential progression driving mutations. CNA analysis identified 31 lesions, none with known poor prognostic impact. No novel recurrent lesion was identified: most cases showed no lesions (38%) or an isolated del(13q) (31%). The expression of 6 genes, selected from a gene expression profile analysis by microarray and quantified by droplet digital PCR on a cohort of 79 CLL (58 US-CLL and 21 non-US-CLL), allowed to build a decision-tree capable of recognizing at diagnosis US-CLL patients. Conclusions: The genetic landscape of US-CLL is characterized by the absence of known unfavorable driver mutations/CNA and of novel recurrent genetic lesions. Among CLL patients with favorable immunogenetics, a decision-tree based on the expression of 6 genes may identify at diagnosis patients who are likely to maintain an indolent disease for decades.
Asunto(s)
Cadenas Pesadas de Inmunoglobulina/genética , Región Variable de Inmunoglobulina/genética , Leucemia Linfocítica Crónica de Células B/genética , Estudios de Cohortes , Variaciones en el Número de Copia de ADN , Progresión de la Enfermedad , Genes p53 , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hibridación Fluorescente in Situ , Mutación , Análisis de Secuencia por Matrices de Oligonucleótidos , Secuenciación del ExomaRESUMEN
Even if NOTCH1 is commonly mutated in chronic lymphocytic leukemia (CLL), its functional impact in the disease remains unclear. Using CRISPR/Cas9-generated Mec-1 cell line models, we show that NOTCH1 regulates growth and homing of CLL cells by dictating expression levels of the tumor suppressor gene DUSP22. Specifically, NOTCH1 affects the methylation of DUSP22 promoter by modulating a nuclear complex, which tunes the activity of DNA methyltransferase 3A (DNMT3A). These effects are enhanced by PEST-domain mutations, which stabilize the molecule and prolong signaling. CLL patients with a NOTCH1-mutated clone showed low levels of DUSP22 and active chemotaxis to CCL19. Lastly, in xenograft models, NOTCH1-mutated cells displayed a unique homing behavior, localizing preferentially to the spleen and brain. These findings connect NOTCH1, DUSP22, and CCL19-driven chemotaxis within a single functional network, suggesting that modulation of the homing process may provide a relevant contribution to the unfavorable prognosis associated with NOTCH1 mutations in CLL.
Asunto(s)
Quimiocina CCL19/fisiología , Fosfatasas de Especificidad Dual/genética , Leucemia Linfocítica Crónica de Células B/patología , Fosfatasas de la Proteína Quinasa Activada por Mitógenos/genética , Receptor Notch1/genética , Línea Celular , Movimiento Celular , Quimiotaxis , ADN (Citosina-5-)-Metiltransferasas/metabolismo , ADN Metiltransferasa 3A , Regulación Neoplásica de la Expresión Génica , Genes Supresores de Tumor , Xenoinjertos , Humanos , Leucemia Linfocítica Crónica de Células B/genética , Mutación , Dominios Proteicos/genéticaAsunto(s)
Anemia/epidemiología , Estudios Transversales , Humanos , Lactante , Prevalencia , Factores de Riesgo , Senegal/epidemiologíaRESUMEN
The aim of this study was to evaluate the oral health status of the parents and their children and the relationships between the parents' oral health status and their children one. Subjects comprised 200 parents (mothers and fathers) and 200 of their children selected at the pediatric dental clinic of the children's hospital Albert Royer and the pediatric dental clinic of the Department of Odontology. In both groups, we have evaluated the dental caries prevalence and dental examination was performed using DMFT or DMF teeth for children. To evaluate the oral hygiene habits we used the Silness and Löe index and a questionnaire. We have finally assessed the relationships between the parents' oral health status and their children' oral health. The dental caries prevalence was 63% for the parents with mean DMF teeth of 5.8 and 5.2 SD and for the children it was 94% and the DMF teeth was 5.85 and 4.00 SD. The parents' DMF teeth, their gingival health and their oral hygiene habits were significantly associated to their professional status (ANOVA: p = 0.00 < 0.05). The DMF teeth of the children was associated with those of their parents and to their parents' professional status. The children's oral hygiene habits and their parents' habits were also associated.
Asunto(s)
Caries Dental/epidemiología , Países en Desarrollo , Relaciones Padres-Hijo , Padres , Enfermedades Periodontales/epidemiología , Adolescente , Adulto , Anciano , Niño , Preescolar , Índice CPO , Escolaridad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Salud Bucal , Higiene Bucal/estadística & datos numéricos , Prevalencia , Senegal/epidemiología , Adulto JovenRESUMEN
INTRODUCTION: The squamous carcinoma of the hypopharynx constitutes the first reason of hospitalization in our department. Different studies have been realized about it and showed an epidemiological profile characterized by the young age of the patients and the predominance of female. OBJECTIVES: To specify the place of the children in hypopharynx cancers. To evaluate the epidemiological criteria and the difficulties in the management. MATERIALS AND METHODS: Retrospective study of 11 years (1995-2005). Collection of the data concerning the epidemiology, clinical and paraclinical findings, the treatment, and the evolution was carried out at the University Department of Otorhinolaryngology in Dakar (Sénégal). RESULTS: 15 charts of children have been collected. They presented in the majority of the cases, an advanced cancer, with 93% of T3T4. The lesion was localized at the retro-cricoid area in 4 cases, the pyriform sinus in 3 cases, the oesophagus junction in 2 cases, and the posterior wall in 1 case. In 5 cases the lesion was spreading to the totality of the hypopharynx. No case of smoking or alcohol has been noted. The anemia has been noted in 86.7% of the cases. A case of papillomatosis of the mouth and lips has been noted. The treatment was for most of cases as symptomatic, like tracheotomy with or without gastrostomy. The evolution was fatal with 11 deaths (73.33%). DISCUSSION: Our set is the richest set through the world of hypopharyngeal cancers in children. The Plummer-Vinson syndrome noted in 86.7% of the cases and the viral infection by HPV could play a role in the genesis of this cancer. CONCLUSION: The cancer of the hypopharynx essentially affects the young women in Sénégal without alcohol or tobacco consumption. It does not save the children, with an awful prognosis, however. So, it is imperative to organize a vast campaign of information of the populations on the bad prognosis of this cancer and to lead a large-scale epidemiological investigation, to get a better understanding of this cancer in our country.
Asunto(s)
Carcinoma de Células Escamosas , Neoplasias Hipofaríngeas , Adolescente , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/terapia , Niño , Femenino , Humanos , Neoplasias Hipofaríngeas/diagnóstico , Neoplasias Hipofaríngeas/patología , Neoplasias Hipofaríngeas/terapia , Masculino , SenegalRESUMEN
The goal of our study is to assess the anatomical type of the superficial temporal artery (STA) in the black population using the classification of Ricbourg et al.. Forty-seven fresh cadavers and three extracted and frozen heads were included in this study. The external carotid artery was isolated in the neck and injected by Rhodopas stained with Congo Red. The superficial temporal artery was dissected using a Y-shaped skin incision. The last step of the procedure was to remove the flap of the fascia superficialis temporis. The third segment of the superficial temporal artery and its terminal branches were studied. This segment courses cephalad and wraps the zygomatic arcade. It splits into two terminal branches: the temporo-frontal and the temporo-parietal ones. The most important of its collaterals, the zygomato-maleus artery, plays a crucial role for distinguishing the subtypes of STA according to the classification of Ricbourg et al.. Indeed, this branch can be subdivided into two types: --type I: the zygomato-malar artery arises from the trunk of the STA; it courses perpendicular and with a slightly ascending direction; this type accounts for 93% of the cases. --type II: the zygomato-malar artery originates from the branch of the temporo-frontal artery. Its course is either horizontal or caudad. This type accounts for 3% of the cases. Our results confirm those of Ricbourg et al.. Thus, we could not CONFIRM the notion of a racial predominance of typology of the STA in our context. We did not study the dimensions of STA and also the level of its bifurcation. Indeed, it has been largely reported in the literature. These elements constitute the anatomic basis of the surgical use of temporal flaps. The vessel-containing tissue in which travels the STA forms the so-called fascia temporalis superficialis whose plasticity and polyvalency are critical during the procedures of plastic and reconstructive surgeries.
Asunto(s)
Tejido Subcutáneo/cirugía , Colgajos Quirúrgicos , Arterias Temporales/anatomía & histología , Población Negra , Cadáver , HumanosRESUMEN
Class III skeletal abnormalities are known as sagittal defects and they are recognized by a hollow profile, which is an unesthaetical morphological distorsion often ill--accepted by the patient, a severe disability. Due to the large number of clinical patterns, it is crucial to make an accurate diagnosis. Class Ill skeletal abnormalities involving a maxillary brachygnatia are caused by an insufficient development of the jawbone. Treatment will therefore consist in boosting growth of the lower back section of the jawbone. The external device known as Delaire mask which stimulates growth of the lower back section of the jaw is particularly recommended to achieve this. This piece of research set out to assess the effectiveness of this method based on five of our patients. Outstanding results were obtained, namely alveolar ridge slided forward on the jawbone, improved profile (a cutaneous Class I is obtained), and a disappearance of the occlusion, along with a correction of the inverted backward bite. When adequately prescribed, the use of the Delaire mask, as opposed to corrective surgery, leads to a slow and gradual improvement. Furthermore, results achieved among young children blend into their own natural growth. By resorting to early treatment with the mask, it is possible to avoid falling back on complex surgery, which would almost necessarily be of the orthognatic type among adults.
Asunto(s)
Enfermedades Óseas/terapia , Aparatos de Tracción Extraoral , Anomalías Maxilomandibulares/patología , Anomalías Maxilomandibulares/terapia , Ortodoncia Correctiva/métodos , Niño , Oclusión Dental , Diagnóstico Diferencial , Femenino , Humanos , Desarrollo Maxilofacial , Osteogénesis , Técnica de Expansión Palatina , Técnicas de Movimiento Dental , Resultado del TratamientoRESUMEN
Teething is a physiological process that may be marked by local regional or general physiopathologies. We have studied these disorders in a sample of 499 children whom we followed from the age of 5 until the age of 30 months. The study consisted in a clinical endobuccal examination. Each month we recorded the order and the eruption date of the tooth or teeth and the disturbances that arise during the process or after, if any. We expose the results of this study in this paper. We collected local and general disturbances during the primary teeth eruption period. We considered that in certain conditions these disturbances could be to the eruption process. Teething is certainly a natural process, however considering its traumatic impact on the young child, we should not reject the aetiology in the justification of the disturbances observed in this process and seek another one which might not be valid.
Asunto(s)
Estado de Salud , Erupción Dental/fisiología , Diente Primario/fisiología , Diarrea/fisiopatología , Trastornos de Alimentación y de la Ingestión de Alimentos/fisiopatología , Femenino , Fiebre/fisiopatología , Estudios de Seguimiento , Gingivitis/fisiopatología , Humanos , Lactante , Masculino , Senegal , Sialorrea/fisiopatología , Trastornos del Inicio y del Mantenimiento del Sueño/fisiopatología , Vómitos/fisiopatologíaRESUMEN
Cellulitises originated from teeth are frequent in developing countries. Theyare noted as well as in child as in adult. In child, causal tooth may be primary or permanent. In a prospective trial carried at Hôpital d'Enfants Albert Royer CHU-Fann, where we studied the frequency of cellulitises among the children, the main patterns of dental affections and the causal teeth involved and, in the same way, the management and prevention of these diseases in child. We noted that: 56.52% of the cases of cellulitises recorded interest the child of pediatric dentistry age and that 87.5% of the cellulitises cases are due to a primary tooth (primary molar overall) and first permanent molar necrosis. Management and prevention of cellulitises are based on: the respect of the therapeutic protocol, dental hygiene education and systematization of setting of dental caries preventive clinical procedures like SEALANTS and stainless steel crowns as well as in primaryand permanent dentition with as main target the primary molars and the first permanent molar or 6 years age tooth.
Asunto(s)
Celulitis (Flemón)/etiología , Caries Dental/complicaciones , Enfermedades de las Encías/etiología , Adolescente , Adulto , Celulitis (Flemón)/epidemiología , Niño , Preescolar , Femenino , Enfermedades de las Encías/epidemiología , Humanos , Lactante , Masculino , Persona de Mediana Edad , Estudios Prospectivos , SenegalRESUMEN
'LEOPARD syndrome' is a syndrome affecting many systems or organs. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to the damage of a given organ. In the presented case, there are oro-dental and craniofacial anomalies. The relationship between the LEOPARD syndrome and the given anomalies and the possibilities of the management and the follow-up of the diseased are studied. The clinical case presented is a 4-year-old boy with LEOPARD syndrome showing retardation of dental development, delayed development and possible agenesis of permanent teeth, and craniofacial anomalies (osseous hypodevelopment). The bibliographical study shows that LEOPARD syndrome is due to damage of the neural crest cells. Thus, the dental and craniofacial anomalies arise since neural crest cells participate in the formation of the teeth and some craniofacial bones. Therefore, dental and craniofacial anomalies might be expected in some cases of the disease. The therapeutic management of the lesions, and the follow-up of the patient would be done by a multidisciplinary team.
Asunto(s)
Anomalías Múltiples/patología , Anodoncia/etiología , Anomalías Craneofaciales/etiología , Lentigo/complicaciones , Anodoncia/diagnóstico por imagen , Cefalometría , Preescolar , Anomalías Craneofaciales/diagnóstico por imagen , Humanos , Masculino , Microstomía/etiología , Radiografía , SíndromeRESUMEN
Chronology and eruption dates of primary teeth are parameters of importance in different medical scientific fields. We carried a longitudinal clinical study to determine these parameters in a local Senegalese population. The study interests a sample of 573 Senegalese Negro children of the two sexes and its aims are to situate these parameters formally and in space in on hand, and to be able to justify; in comparison to these parameters, the disturbances which accompany often the phenomenon of dental eruption in the other hand. We have results relating to chronology and eruption date of the 20 primary teeth of each of the children. Our study strengthens data already known but it reveals also other data as well as important. Other studies are however necessary to set a good board of chronology and eruption date of primary teeth in the Senegalese population.
Asunto(s)
Erupción Dental , Diente Primario/crecimiento & desarrollo , Preescolar , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Valores de Referencia , SenegalRESUMEN
A total of 1007 files were studied with regard to the prevalence of congenitally missing teeth. All patients were radiographed. 4.56% were found to have at least one congenitally missing tooth. The lower second premolar was the most commonly missing tooth in this study (41.66%), followed by the upper lateral incisor (22.2%). The prevalence and the distribution of dental agenesis between male and female was similar.
Asunto(s)
Anodoncia/epidemiología , Adolescente , Anodoncia/diagnóstico por imagen , Anodoncia/patología , Niño , Femenino , Humanos , Masculino , Prevalencia , Radiografía , Senegal/epidemiologíaRESUMEN
The traumatisms of primary teeth have often sequels thereabouts grave on the germs of their successional permanent teeth. They have many causes but they are above all frequent during the child's walking trial. We have carried out a clinical and radiographic study of some cases. The study has ascertained the fact that the diversity of the sequels and their gravity depend on the age of the occurring of the traumatism, the intensity and the direction of the shock. The therapeutic and preventive management of these traumatisms and their possible sequels use a pluridisciplinary protocol based on the strict application of indicated treatments, the clinical and radiographic regular follow up and the adoption of a rigorous preventive attitude by the parents during the target period of walking trial.
Asunto(s)
Enfermedades Dentales/etiología , Germen Dentario/patología , Diente Primario/lesiones , Accidentes por Caídas , Factores de Edad , Niño , Preescolar , Protocolos Clínicos , Femenino , Estudios de Seguimiento , Humanos , Masculino , Radiografía , Resorción Radicular/etiología , Enfermedades Dentales/prevención & control , Enfermedades Dentales/terapia , Erupción Dental/fisiología , Erupción Ectópica de Dientes/etiología , Germen Dentario/diagnóstico por imagenRESUMEN
The authors examine accessibility and the sustainability of quality health care in a rural setting under two alternative cost recovery methods, a fee-for-service method and a type of social financing (risk-sharing) strategy based on an annual tax+fee-for-service. Both methods were accompanied by similar interventions aimed at improving the quality of primary health services. Based on pilot tests of cost recovery in the non-hospital sector in Niger, the article presents results from baseline and final survey data, as well as from facility utilization, cost, and revenue data collected in two test districts and a control district. Cost recovery accompanied by quality improvements increases equity and access to health care and the type of cost recovery method used can make a difference. In Niger, higher access for women, children, and the poor resulted from the tax+fee method, than from the pure fee-for-service method. Moreover, revenue generation per capita under the tax+fee method was two times higher than under the fee-for-service method, suggesting that the prospects of sustainability were better under the social financing strategy. However, sustainability under cost recovery and improved quality depends as much on policy measures aimed at cost containment, particularly for drugs, as on specific cost recovery methods.
PIP: In Niger the Ministry of Public Health in 1989 carried out a pilot test on a pure fee-for-service financing mechanism and a local social financing mechanism, a tax + fee-for-service, for a national cost recovery health policy. Three health districts were selected: the District of Say, the District of Boboye, and the District of Illela. The fee-per-episode of illness method was instituted in the District of Say where fees were set at 200 FCFA ($0.66) per user 5 years and older and 100 FCFA ($0.33) for children under 5. The second method was implemented in the District of Boboye in the form of a local, annual tax of 200 FCFA ($0.66) to be paid by the district taxpayers and a small fee-per-episode to be paid by users of public health facilities. A baseline survey collected information on the curative health behavior of 2710 individuals who reported illness during the last 2 weeks preceding the survey. Information was also collected on preventive care behavior from 1770 childbearing women for the baseline survey and 1615 childbearing women for the final survey. Information on monthly activities and utilization of the 23 health facilities was collected for the year preceding the launching of fee collection, the base year, May 1992-April 1993, and the year following the launching of charges at public facilities, the test year, May 1993-April 1994. In the District of Say the number of visits declined slightly, but the total quantity of care increased significantly. In contrast, the number of initial visits increased by nearly 40% in the District of Boboye, and significant improvement was observed in the utilization of public health facilities among children and women. Overall, people spent less on health care across the 3 districts during the test period than they did before. Furthermore, drug consumption at public health facilities in the 2 test districts was well below current needs.
Asunto(s)
Planes de Aranceles por Servicios , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Servicios de Salud Rural/economía , Impuestos , Seguro de Costos Compartidos , Recolección de Datos , Reforma de la Atención de Salud/economía , Accesibilidad a los Servicios de Salud/economía , Investigación sobre Servicios de Salud , Indigencia Médica , Niger , Proyectos Piloto , Análisis de RegresiónRESUMEN
Attaining efficiency in a health care system with a budget constraint involves increasing the utilization of the most cost-effective services. This can be achieved by adjustments to prices, cost curves, or demand curves. In this paper, the potential for demand curve adjustments is examined by selecting two apparently cost-effective services (prenatal care and childhood immunization against tuberculosis), and analyzing the factors explaining their utilization. Data from recent household surveys in Burkina Faso and Niger are used. A multivariate analysis of utilization employs income, price, and taste variables. Utilization is highly sensitive to the distance which must be travelled to the health facility, a price, and taste variables. Utilization is highly sensitive to the distance which must be travelled to the health facility, a price variable. Members of certain ethnic groups tend to use the services less, other things being equal. The importance of demand-side factors like ethnicity points to certain kinds of policy interventions like information, education and communication activities which could increase the utilization of cost-effective services.
PIP: Two surveys undertaken by the Health Financing and Sustainability Project in Burkina Faso and Niger in 1994 provided the data for analysis. Prenatal care information was collected in households from women who had been pregnant during the previous 12 months. Bacillus Calmette-Guerin (BCG) immunization information was available only from the Niger survey. In Burkina Faso only 48% of women received prenatal care and only 33% did in the Niger sample. A multivariate analysis of utilization of these 2 services employed income, price, and taste variables (women's age, education, and ethnicity). The low utilization of services was examined using independent variables. Regarding prenatal care the effect of income was visible in Niger, but it was absent in Burkina Faso. Ethnicity had an important effect on prenatal care. In Burkina Faso it was much less likely to get prenatal care for Fulani or Gourmantche women rather than Mossi. Also in Niger among the Fulani and Hausa low utilization was prevalent. The price variables also affected utilization, particularly the distance to the health facility. On the other hand, user charges stimulated utilization because enhanced services. Teenagers were less likely to get their babies immunized, although they were just as likely to get prenatal care. In Niger 26% of girls received BCG compared to 22% of boys. Part of the powerful effect of ethnicity was explained by French colonial rule, when Mossi and Zarma groups were incorporated into the colonial administration. This suggests the need for certain policy interventions, such as information, education, and communication activities to increase utilization of cost effective services.
Asunto(s)
Atención a la Salud/organización & administración , Necesidades y Demandas de Servicios de Salud/estadística & datos numéricos , Programas de Inmunización/estadística & datos numéricos , Atención Prenatal/estadística & datos numéricos , Burkina Faso , Preescolar , Análisis Costo-Beneficio , Eficiencia Organizacional , Etnicidad , Femenino , Humanos , Lactante , Análisis Multivariante , Niger , Aceptación de la Atención de Salud/estadística & datos numéricos , Embarazo , Administración en Salud Pública/economía , Tuberculosis/prevención & controlRESUMEN
Apres une etude epidemiologique en milieu scolaire a Dakar; l'etat de la premiere molaire permanente a ete etudie. Une prevalence de la carie dentaire a ete trouvee (34 pour cent au maxillaire; 60 pour cent a la mandibule). 12 pour cent des premieres molaires mandibulaires doivent en etre extraites. Les consequences dentaires; parodontales et occlusales de la perte precoce des premieres molaires permanentes ont ete etudiees
Asunto(s)
Caries Dental/epidemiología , Diente Molar , OrtodonciaRESUMEN
The authors expose a retrospective study carried out on records of patients from 18 months to 15 years old consulting for esthetic restorations in 3 dental health care centers of Dakar. The total number sampled is 151 children with 89 boys and 62 girls representing 3.5% of the total number of consultants [3964] during two years [1991 and 1992] in the dental health care centers. The study shows that the main etiological factors of the esthetic restorations in constant progression, are dental traumatisms, and caries infections. It shows also that the request varies with age and sex and that the male are more represented in the sample. Face to the lack of structures, material and human means, information, education and communication for the oral and dental health have to be fully broadcasted in the kindergartens and elementary schools in the limit of an entire prevention program in order to reduce the needs in this precise field.