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1.
Proc Natl Acad Sci U S A ; 115(34): E8007-E8016, 2018 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-30072435

RESUMO

Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex. We describe here 11 new heterozygous ICA-causing RPSA protein-coding mutations, and the first two mutations in the 5'-UTR of this gene, which disrupt mRNA splicing. Overall, 40 of the 73 ICA patients (55%) and 23 of the 56 kindreds (41%) carry mutations located in translated or untranslated exons of RPSA. Eleven of the 43 kindreds affected by sporadic disease (26%) carry RPSA mutations, whereas 12 of the 13 multiplex kindreds (92%) carry RPSA mutations. We also report that 6 of 18 (33%) protein-coding mutations and the two (100%) 5'-UTR mutations display incomplete penetrance. Three mutations were identified in two independent kindreds, due to a hotspot or a founder effect. Finally, RPSA ICA-causing mutations were demonstrated to be de novo in 7 of the 23 probands. Mutations in RPSA exons can affect the translated or untranslated regions and can underlie ICA with complete or incomplete penetrance.


Assuntos
Éxons , Síndromes de Imunodeficiência/genética , Mutação , Penetrância , Biossíntese de Proteínas/genética , Processamento de RNA/genética , Receptores de Laminina/genética , Proteínas Ribossômicas/genética , Baço/anormalidades , Regiões 5' não Traduzidas , Feminino , Efeito Fundador , Heterozigoto , Humanos , Síndromes de Imunodeficiência/metabolismo , Masculino , Receptores de Laminina/biossíntese , Proteínas Ribossômicas/biossíntese , Baço/metabolismo
2.
Case Rep Pulmonol ; 2018: 7831910, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29862109

RESUMO

Hydatid pulmonary embolism rarely occurs. It arises from the rupture of a hydatid heart cyst or the opening of a visceral hydatid cyst into the venous circulation. We report a case with pulmonary hydatidosis resulting in a massive bilateral pulmonary embolism in a 56-year-old woman with history of hepatic echinococcosis. A brief overview of clinical features and radiologic findings is presented.

3.
J Forensic Leg Med ; 54: 121-126, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29413953

RESUMO

The aim of our study was to examine epidemiological aspects of child abuse and neglect in Tunisia. We conducted a retrospective and descriptive study over a period of 10 years (January 2006-December 2015), based on the files handled by the Child Protective Services (CPS) agency in the city of Sousse, Tunisia. During the study period, 3736 referrals were received by the CPS agency of Sousse. Of the total, 2212 (59.2%) were screened in and investigated. Of the investigated cases, 317 (14,3%) were substantiated as abuse or neglect. The reports of maltreatment came mostly from parents (37.8%). Neglect was the major type of maltreatment (51.4%) and an association of 2 types of maltreatment was found in 76 cases (24%). Parents were the perpetrators in 221 cases (69.7%). The average age of the victims was 10 years and boys accounted for 56%. In the 257 cases where the marital status of the parents was noted in the files, the parents were divorced in 62 cases (24.1%) and the child lived with a single mother in 35 cases (13.6%). Alcohol addiction was found in 21 parents (6.6%) and one of the parents was incarcerated in 39 cases (12.3%). As for the socio-economic status, it was evaluated in 188 families and was low in 123 cases (65.4%). In the absence of studies related to this scourge in Tunisia, we hope to raise awareness of the abuse and alert those who come into contact with the child on the importance of detecting and reporting early maltreatment and thus to introduce more appropriate care. A comprehensive prevention strategy needs to be established by addressing risk factors, cultural norms conducive to abuse and unwanted pregnancies.


Assuntos
Maus-Tratos Infantis/estatística & dados numéricos , Adolescente , Distribuição por Idade , Alcoolismo/epidemiologia , Criança , Serviços de Proteção Infantil , Pré-Escolar , Divórcio/estatística & dados numéricos , Feminino , Humanos , Lactente , Masculino , Pais , Prisioneiros/estatística & dados numéricos , Estudos Retrospectivos , Distribuição por Sexo , Pais Solteiros/estatística & dados numéricos , Classe Social , Tunísia/epidemiologia , Ferimentos e Lesões/epidemiologia
4.
J Forensic Nurs ; 13(1): 39-42, 2017 Jan/Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28212199

RESUMO

Caregiver-fabricated illness in a child is a form of child maltreatment caused by a caregiver inducing a child's illness, leading to unnecessary and potentially harmful medical procedures and treatments. This condition can result in significant morbidity and mortality. We present the case of three siblings in Tunisia who were poisoned with chloralose by their own mother. The symptoms that the children presented with led to misdiagnoses, which resulted in the death of two of the children. Characteristics of the clinical presentation are articulated, followed by a discussion of the legal measures that apply to the offender and the role of physicians, nurses, and medicolegal experts involved in such a complex medical situation.


Assuntos
Mães/psicologia , Síndrome de Munchausen Causada por Terceiro/psicologia , Irmãos , Criança , Pré-Escolar , Cloralose/envenenamento , Feminino , Humanos , Hipnóticos e Sedativos/envenenamento , Masculino , Síndrome de Munchausen Causada por Terceiro/legislação & jurisprudência
5.
Am J Forensic Med Pathol ; 38(2): 91-93, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28106684

RESUMO

Takayasu arteritis is an uncommon inflammatory disease with usually a good prognosis. However, sometimes, the evolution can be fatal essentially by a coronary arteries involvement. We present a case of a 19-year-old woman who died suddenly from cardiogenic shock complicating an unknown Takayasu arteritis.At the autopsy, the aorta showed a significant thickening of the wall. The coronary arteries were slightly thickened and did not show any occlusion. Microscopic examination of the aorta showed an abundant granulomatous and a lymphoplasmacytic infiltrate. Microscopic sections of other internal organs showed signs of cardiac hypertrophy and an extensive edema of the lung. Death was attributed to acute heart failure complicating a supravalvular aortic stenosis secondary to unknown Takayasu arteritis.Takayasu arteritis can be life-threatening by an occlusion of the ascending aorta and its major branches, without any coronary arteries involvement.


Assuntos
Estenose Aórtica Subvalvar/patologia , Morte Súbita/etiologia , Arterite de Takayasu/complicações , Estenose Aórtica Subvalvar/complicações , Cardiomegalia/patologia , Vasos Coronários/patologia , Feminino , Humanos , Edema Pulmonar/patologia , Choque Cardiogênico/etiologia , Arterite de Takayasu/diagnóstico , Adulto Jovem
6.
J Burn Care Res ; 38(4): e734-e738, 2017 Jul/Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27893573

RESUMO

Self-immolation is a self-destructive conduct described since antiquity. Its frequency is variable from one country to another and it is a real public health problem in parts of the world. In Tunisia, after the 2011 revolution the problem of self-immolation protest has been highly publicized giving the impression of an increase in this phenomenon. This is a retrospective analysis of all fatal self-immolation cases, collected over a 20-year period (1996-2015) at the Forensic Medicine Department of the Farhat Hached University Hospital, Sousse, Tunisia. A total of 41 cases were collected, of which 23 were men (56%). The mean age was 36.1 years. Prior to 2011, 78.9% of the victims of self-immolation were women and after 2011, 86.4% were men. The rural origin of the victims was found in 56.25% of the cases. History of psychiatric illness was found in four individuals. The self-immolation took place in the victims' homes in 19 cases (46.3%). It came after a conjugal or family conflict in 14 cases (34.1%) and it is of protest character in 8 cases (19.5%). This study confirmed the increasing frequency of self-immolation in Tunisia after the 2011 revolution and noted a change in the victims' profiles.


Assuntos
Queimaduras/mortalidade , Fogo/estatística & dados numéricos , Suicídio/estatística & dados numéricos , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Fatores Socioeconômicos , Tunísia , Adulto Jovem
7.
Pan Afr Med J ; 28: 277, 2017.
Artigo em Francês | MEDLINE | ID: mdl-29942411

RESUMO

Post-traumatic anterior pituitary insufficiency (PTAPI) is a rare but established disease caused by ischemic lesions after severe cranial trauma. This case study aims to highlight the criteria for imputability of PTAPI to a cranial trauma as well as the specific principles of legal redress in relation to this disease. We conducted a forensic study of a patient with diagnosed PTAPI followed up in the Division of Endocrinology and Legal Medicine at the University Hospital, Sousse (Tunisia). The patient included in the study was a 45-year old woman with no particular past medical history. (6 gynaecological procedures, 4 parities and 2 abortions) having regular menstrual cycles, without a history of hemorrhagic childbirth, who had been involved in a road accident (pedestrian got hit by a car) causing occipital trauma without initial knowledge loss. She developed hypothyroidism three years after the accident. The hormonal assessment showed the involvement of all the other axes. Neuroradiological examination objectified pituitary gland and pituitary stalk integrity. The definitive diagnosis of PTAPI was made. Medical examination (performed 4 years after the accident) concluded that PTAPI was imputable to the accident. Permanent partial disability rate according to ordinary law has been assessed at 25%. PTAPI diagnosis is made by elimination. The evaluation of physical injury should be based on residual symptoms, on therapeutic constraints and on its impact on daily and professional activity. Patient's evolution under hormone replacement therapy is often favorable, however, complications may occur, hence the necessity to establish these complications in order to preserve the right of the patient to underwent new treatments.


Assuntos
Acidentes de Trânsito/legislação & jurisprudência , Traumatismos Craniocerebrais/complicações , Hipopituitarismo/etiologia , Avaliação da Deficiência , Feminino , Terapia de Reposição Hormonal , Humanos , Hipopituitarismo/diagnóstico , Hipotireoidismo/etiologia , Pessoa de Meia-Idade , Fatores de Tempo , Tunísia
8.
Tunis Med ; 95(4): 268-275, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29492931

RESUMO

INTRODUCTION: The Device-vigilance (DV) manages incidents or risk of incidents related to the use of medical devices (MD). In Tunisia, absence of a regulatory framework organizing DV is the major obstacle to caregivers' involvement in this system. OBJECTIVE: 1/Compare knowledge, attitudes and practices of our UHC's physicians regarding the establishment of DV system (medical versus surgical) and 2/Detect effect of healthcare's environment on risk's perception linked to the use of MD. METHODS: It is a descriptive cross-sectional and comparative study type knowledge, attitudes and practices; among all physicians of our UHC who are users of MD during their practice. A self-administered pre-established pre-tested questionnaire has been established. Data seizure and analyzing was performed using SPSS software20.0. Test adopted was the X2 (Pearson)(p<0.05) with correction using Yates or exact test Fischer. RESULTS: A statistically significant difference in favor of physicians exercising in medical services is reported for the knowledge of standardized reporting form's existence(p=0.04). Physicians practicing in surgical services report incidences and risk of incidences regarding MD use significantly more than their colleague of medical services. For attitudes, surgical physicians perceive the responsible of the reporting as any caregiver (p=0.007).As for the practices, they are for the presence of MD's organized management in the service of exercise(P<10-4). CONCLUSION: At any healthcare environment, lack of knowledge, inadequacy of the attitudes and readjustment of practices among our physicians must be filled. The promulgation of regulatory texts is necessary in order to promote DV's sector of and to ensure the safety of both patients and caregivers.

9.
Autops. Case Rep ; 6(4): 15-19, Oct.-Dec. 2016. ilus
Artigo em Inglês | LILACS | ID: biblio-885174

RESUMO

Myocarditis is an inflammatory disease of the myocardium with heterogeneous clinical manifestations and progression. In clinical practice, although there are many methods of diagnosis of acute myocarditis, the diagnosis remains an embarrassing dilemma for clinicians. The authors report the case of 9-month-old infant who was brought to the Pediatric Emergency Department with sudden onset dyspnea. Examination disclosed heart failure and resuscitation was undertaken. The electrocardiogram showed an ST segment elevation in the anterolateral leads with a mirror image. Cardiac enzyme tests revealed a significant elevation of troponin and creatine phosphokinase levels. A diagnosis of acute myocardial infarction was made, and heparin therapy was prescribed. The infant died on the third day after admission with cardiogenic shock. The autopsy showed dilatation of the ventricles and massive edema of the lungs. Histological examinations of myocardium samples revealed the presence of a marked lymphocytic infiltrate dissociating myocardiocytes. Death was attributed to acute myocarditis. The authors call attention to the difficulties of differential diagnosis between acute myocarditis and acute myocardial infarction especially in children, and to the important therapeutic implications of a correct diagnosis.


Assuntos
Humanos , Feminino , Criança , Infarto do Miocárdio/patologia , Miocardite/patologia , Autopsia/métodos , Diagnóstico Diferencial , Evolução Fatal , Heparina/uso terapêutico
10.
Pan Afr Med J ; 25: 260, 2016.
Artigo em Francês | MEDLINE | ID: mdl-28293376

RESUMO

INTRODUCTION: The University Hospital Farhat Hached Sousse (Tunisia), has implemented a device-vigilance (DV) system, according to ANCSEP (National Agency of the Sanitary and Environmental Control of Products) guidelines, in order to manage the risk more effectively in hospital and to improve the quality and safety of patient care. In Tunisia the lack of regulation regarding device vigilance is the major obstacle to caregiver vigilance. The objective of this study is to establish the knowledge, attitudes, and clinical practice of University Hospital physicians regarding the implementation of the DV system. METHODS: We conducted a descriptive cross-sectional study of KAP (knowledge, attitudes and practices) among all the physicians working at the University Hospital Farhat Hached Sousse (Tunisia) who were users of medical devices (MDs) in the practice of their profession. A self-administered, pre-established and pre-testing questionnaire was developed. Data were collected and analyzed using SPSS20.0 software. RESULTS: The response rate was 51.9 % (183/95). A lack of knowledge about DV has been reported. More than half of the respondents didn't know the local correspondent of health establishment and the existence of a standardized vigilance reporting form. Regarding the attitudes, 89,5% express their interest in setting up a DV system and 37,5% acknowledged that the vigilance reporting form should be filled by the caregiver notifying the incident. Regarding the procedures, the majority of physicians confirmed the absence of an organized maintenance management of the MDs in the practice of their services. 90.5% express their wishes to receive information but few of them express their wishes to receive proper training (57.9%). CONCLUSION: A lack of information and training in a sensitive field which need to be heavily regulated has been a topic of discussion. The promulgation of regulatory texts is necessary in order to promote MD sector and guarantee the safety of patient and their users.


Assuntos
Equipamentos e Provisões/normas , Conhecimentos, Atitudes e Prática em Saúde , Médicos/psicologia , Vigilância de Produtos Comercializados , Adulto , Atitude do Pessoal de Saúde , Estudos Transversais , Feminino , Guias como Assunto , Hospitais Universitários , Humanos , Masculino , Pessoa de Meia-Idade , Médicos/normas , Gestão de Riscos/métodos , Inquéritos e Questionários , Tunísia
11.
Pan Afr Med J ; 24: 304, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28154659

RESUMO

Accidental injection of formalin is certainly rare, but it has serious consequences in terms of morbidity and mortality. We report a case of severe ophthalmic damage due to an accidental formalin's injection in the eyelid of a three-year-old child presenting with congenital ptosis's surgical repair of her left eye. This accident has damaged the orbital region and led to upper left eyelid's necrosis, eyeball's deformation and ipsilateral cataract. In terms of our observation, we discussed consequences of this rare type of accident, and its systematic and loco-regional effects. We tried also to explain these manifestations by analyzing the metabolism process of formalin in the human body. Finally, a medico-legal implication of such accident has been illustrated according to the Tunisian law (Penal Code of the Tunisian republic 'PCT').


Assuntos
Anestésicos Locais/administração & dosagem , Pálpebras/patologia , Formaldeído/administração & dosagem , Erros de Medicação , Blefaroptose/cirurgia , Pré-Escolar , Feminino , Formaldeído/efeitos adversos , Humanos , Injeções , Tunísia
12.
Autops Case Rep ; 6(4): 15-19, 2016 Oct-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28210569

RESUMO

Myocarditis is an inflammatory disease of the myocardium with heterogeneous clinical manifestations and progression. In clinical practice, although there are many methods of diagnosis of acute myocarditis, the diagnosis remains an embarrassing dilemma for clinicians. The authors report the case of 9-month-old infant who was brought to the Pediatric Emergency Department with sudden onset dyspnea. Examination disclosed heart failure and resuscitation was undertaken. The electrocardiogram showed an ST segment elevation in the anterolateral leads with a mirror image. Cardiac enzyme tests revealed a significant elevation of troponin and creatine phosphokinase levels. A diagnosis of acute myocardial infarction was made, and heparin therapy was prescribed. The infant died on the third day after admission with cardiogenic shock. The autopsy showed dilatation of the ventricles and massive edema of the lungs. Histological examinations of myocardium samples revealed the presence of a marked lymphocytic infiltrate dissociating myocardiocytes. Death was attributed to acute myocarditis. The authors call attention to the difficulties of differential diagnosis between acute myocarditis and acute myocardial infarction especially in children, and to the important therapeutic implications of a correct diagnosis.

13.
Am J Forensic Med Pathol ; 35(1): 29-33, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24317095

RESUMO

The natural history of the echinococcosis can be studded with multiple complications; the most formidable is sudden death. We studied the epidemiological, pathological, and thanatological features of 34 sudden deaths due to hydatid cyst. The mean age was 33.2 years. A male predominance was observed with a sex ratio of 1.8. Most of our victims were from rural areas (79.4%). Sudden death was preceded by prodromal symptoms in 61.7% of cases. The most common was dyspnea (23.5%), followed by hemoptysis (11.8%). In 85.3% of cases, the cyst location was liver. It was cracked in 25 cases and broken in 6 cases. The rupture was spontaneous in 25 cases (73%). It was preceded by trauma in 7 cases. Death was related to an anaphylactic shock in 82.3% of cases, infection in 14.7%, and respiratory distress in 3% of cases. Sudden death is a serious and not exceptional complication of hydatid cyst. Several mechanisms may explain the sudden death.


Assuntos
Morte Súbita/epidemiologia , Morte Súbita/etiologia , Equinococose/mortalidade , Adulto , Distribuição por Idade , Anafilaxia/mortalidade , Dispneia/etiologia , Feminino , Patologia Legal , Hemoptise/etiologia , Humanos , Masculino , Insuficiência Respiratória/mortalidade , Estudos Retrospectivos , Ruptura/epidemiologia , Ruptura Espontânea/epidemiologia , População Rural/estatística & dados numéricos , Distribuição por Sexo , Choque Séptico/mortalidade , Tunísia/epidemiologia
14.
Tunis Med ; 89(8-9): 659-62, 2011 Aug-Sep.
Artigo em Francês | MEDLINE | ID: mdl-21948665

RESUMO

In Tunisia as in France, the legislator recognized the organ harvesting as of public health priority. To promote it, cells of coordination are created, and controlled by regulatory texts. There are differences in the strategy of organ harvesting in minor but whether he is alive or dead, he is well protected by law. Organ harvesting in alive child is prohibited in both Tunisia and France but the haematopoietic cells one is authorized. In the minor deceased organ harvesting obeys common principles, appearing in the bioethical law (France) and the law n°91-22 of March 25, 1991 (Tunisia) with a difference in the procedure of the assent of the legal guardian.


Assuntos
Coleta de Tecidos e Órgãos/legislação & jurisprudência , Criança , França , Transplante de Células-Tronco Hematopoéticas/legislação & jurisprudência , Humanos , Tunísia
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