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PURPOSE: The first molecular evidence of a monogenic predisposition to mycobacteria came from the study of Mendelian susceptibility to mycobacterial disease (MSMD). We aimed to study this Mendelian susceptibility to mycobacterial diseases in Moroccan kindreds through clinical, immunological, and genetic analysis. METHODS: Patients presented with clinical features of MSMD were recruited into this study. We used whole blood samples from patients and age-matched healthy controls. To measure IL-12 and IFN-γ production, samples were activated by BCG plus recombinant human IFN-γ or recombinant human IL-12. Immunological assessments and genetic analysis were also done for patients and their relatives. RESULTS: Our study involved 22 cases from 15 unrelated Moroccan kindreds. The average age at diagnosis is 4 years. Fourteen patients (64%) were born to consanguineous parents. All patients were vaccinated with the BCG vaccine, and twelve of them (55%) developed locoregional or disseminated BCG infections. The other symptomatic patients had severe tuberculosis and/or recurrent salmonellosis. Genetic mutations were identified on the following genes: IL12RB1 in 8 patients, STAT1 in 7 patients; SPPL2A, IFNGR1, and TYK2 in two patients each; and TBX21 in one patient, with different modes of inheritance. All identified mutations/variants altered production or response to IFN-γ or both. CONCLUSION: Severe forms of tuberculosis and complications of BCG vaccination may imply a genetic predisposition present in the Moroccan population. In the presence of these infections, systematic genetic studies became necessary. BCG vaccination is contraindicated in MSMD patients and should be delayed in newborn siblings until the exclusion of a genetic predisposition to mycobacteria.
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Infecções por Mycobacterium , Mycobacterium , Tuberculose , Recém-Nascido , Humanos , Pré-Escolar , Predisposição Genética para Doença , Vacina BCG , Infecções por Mycobacterium/etiologia , Tuberculose/genética , Interleucina-12 , Mutação/genéticaRESUMO
CONTEXT: Chondroitin 6 sulphate (C6S) is a glycosaminoglycan (GAG) whose accumulation is notable in mucopolysaccharidosis type IVA and VII. Flaxseed, Linum usitatissimum L. (Linaceae) (FS), is reported to have comparable properties to those of soybean, a source of genistein, a potential new treatment for MPSs. OBJECTIVE: We assess the effect of total ethanol flaxseed extract (EFSE) in an animal model of C6S accumulation. MATERIALS AND METHODS: The study was performed in adult male Wistar rats (n = 24) for 15 successive days. The animals were divided into four groups: (1) control injected with physiological saline buffer, (2) intoxicated rats injected intraperitoneally with C6S, (3) intoxicated with C6S and treated with EFSE, and (4) treated with EFSE. All groups were subjected to histopathological and biochemical studies. The antioxidant and phytochemical properties of EFSE were examined. RESULTS: Dry EFSE contains total phenols (6.28 mg EAG/g), condensed tannins (2.98 mg ECAT/g) and flavonoids (0.44 mg ECAT/g) with high antioxidant potential [RPE (IC50 = 8.37 ± 0.176), DPPH (IC50 = 12.79 ± 0.273)]. The LD50 is higher than 5000 mg/kg. The histopathological examination showed an accumulation of C6S in the C6S intoxicated group, which disappeared in the C6S-EFSE treated group. GAGs assays showed an increased excretion in the C6S intoxicated group and increased excretion of 14% in the C6S-EFSE group compared to the C6S group. DISCUSSION AND CONCLUSIONS: EFSE showed significant potential for chelation. Its use for the treatment of GAG accumulation could be suggested and generalized to a larger study population.
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Linho , Mucopolissacaridoses , Animais , Antioxidantes/farmacologia , Sulfatos de Condroitina/química , Glicosaminoglicanos , Humanos , Masculino , Extratos Vegetais/farmacologia , Ratos , Ratos WistarRESUMO
BACKGROUND: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity. The aim of this work is to perform laboratory biochemical testing for confirming the diagnosis of mucopolysaccharidosis (MPS) for the first time in Morocco. METHODS: Over a period of twelve months, 88 patients suspected of having Mucopolysaccharidosis (MPS) were referred to our laboratory. Quantitative and qualitative urine glycosaminoglycan (GAG) analyses were performed, and enzyme activity was assayed on dried blood spots (DBS) using fluorogenic substrates. Enzyme activity was measured as normal, low, or undetectable. RESULTS: Of the 88 patients studied, 26 were confirmed to have MPS; 19 MPS I (Hurler syndrome; OMIM #607014/Hurler-Scheie syndrome; OMIM #607015), 2 MPS II (Hunter syndrome; OMIM #309900), 2 MPS IIIA (Sanfilippo syndrome; OMIM #252900), 1 MPS IIIB (Sanfilippo syndrome; OMIM #252920) and 2 MPS VI (Maroteaux-Lamy syndrome; OMIM #253200). Parental consanguinity was present in 80.76% of cases. Qualitative urinary glycosaminoglycan (uGAGs) assays showed abnormal profiles in 31 cases, and further quantitative urinary GAG evaluation and Thin Layer Chromatography (TLC) provided important additional information about the likely MPS diagnosis. The final diagnosis was confirmed by specific enzyme activity analysis in the DBS samples. CONCLUSIONS: The present study shows that the adoption of combined urinary substrate analysis and enzyme assays using dried blood spots can facilitate such diagnosis, offer an important tool for an appropriate supporting care, and a specific therapy, when available.
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Mucopolissacaridoses/diagnóstico , Mucopolissacaridoses/urina , Urinálise , Adolescente , Arilsulfatases/metabolismo , Arilsulfatases/urina , Criança , Pré-Escolar , Cromatografia em Camada Fina , Teste em Amostras de Sangue Seco/economia , Teste em Amostras de Sangue Seco/métodos , Feminino , Glicosaminoglicanos/análise , Glicosaminoglicanos/metabolismo , Humanos , Iduronidase/metabolismo , Iduronidase/urina , Masculino , Marrocos , Mucopolissacaridoses/enzimologia , Mucopolissacaridoses/metabolismo , Projetos Piloto , Urinálise/economia , Urinálise/métodosRESUMO
BACKGROUND: Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders characterized by the accumulation of glycosaminoglycans, can be diagnosed early through newborn screening programs. Establishing newborn screening in Morocco is a challenging task for multiple economic and social reasons. Screening in a Moroccan population using 1,9-dimethylmethylene blue urinary glycosaminoglycan (GAG) assays may allow for an earlier diagnosis of MPS. We studied the feasibility of implementing screening in Moroccan children as an alternative to national newborn screening. We determined the reference ranges for GAGs in the Moroccan population, their stability during transport, the effectiveness of this test as a screening procedure for MPS in patients, and its use as a screening test for MPS in the Imssouane region, where the rate of consanguineous marriage is 38%. METHODS: Using dimethylmethylene blue assays, urine samples of 47 MPS patients were analyzed, together with urine samples from healthy controls (n = 368, age ranging from 1 month to 25 years), and from Imssouane region children (n = 350, age ranging from 6 months to 24 month). Precision, linearity, recovery, limits, and stability were tested. RESULTS: Urinary GAGs reference values are age and ethnicity dependent. The validation parameters established displayed great precision and accuracy leading to recoveries according to internationally accepted values for bioanalytical methods. Urinary GAGs were stable for a maximum of 7 weeks at 40 °C. Screening of Imssouane children resulted in the detection of a 6-month-old child, diagnosed with MPS I. CONCLUSIONS: Our results demonstrate the usefulness of quantifying glycosaminoglycans for early screening of MPS.
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Glicosaminoglicanos/urina , Programas de Rastreamento/métodos , Mucopolissacaridoses/diagnóstico , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Azul de Metileno/análogos & derivados , Azul de Metileno/metabolismo , Marrocos , Mucopolissacaridoses/urina , Triagem Neonatal/métodos , Valores de Referência , Espectrofotometria , Adulto JovemRESUMO
ABSTRACT: We report the case of a 13-year-old child presenting an unusual case of Guillian-Barre Syndrome (SGB). Its presentation is usually a progression of symmetrical muscle weakness that ascends from the lower extremities, moves toward a more proximal pathway, and is accompanied by absent or depressed tendon reflexes. Here, the patient presented with a rare presentation of Pharyngeal-Cervical-Brachial (PCB) variant of Guillain-Barré syndrome, where the symptomatology began with dysphagia and dyspnea, and the weakness was descending paralysis. The objective of this clinical case report is to highlight this extremely rare presentation of PCB variant of Guillain-Barré syndrome.
RésuméNous décrivons le cas d'un enfant âgé de 13 ans présentant une manifestation inhabituelle du syndrome de Guillain-Barré (SGB). Habituellement, le SGB se caractérise par une faiblesse musculaire symétrique ascendante des deux membres inférieurs, accompagnée d'une perte des réflexes ostéotendineux. Dans ce cas, le patient présentait une variante rare du SGB, appelée la variante Pharyngo-Cervico-Brachiale, où les symptômes ont débuté par une dysphagie et une dyspnée, et la faiblesse musculaire était descendante. L'objectif de cet article est de documenter cette présentation extrêmement rare de la variante Pharyngo-Cervico-Brachiale du syndrome de Guillain-Barré.
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Otomastoiditis is a rare and exceptional complication of tuberculosis; its pathogenesis has been debated since its recognition as a distinct condition. The evolution and prognosis in general are modified after the end of antituberculosis treatment. In our observation, we report the case of an infant with tuberculous otomastoiditis complicated by sigmoid sinus thrombosis.
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Background: The world is currently facing a pandemic due to a new species of the Coronaviridae family called SARS-CoV-2, discovered in the city of Wuhan in China in December 2019. The WHO has named the resulting disease COVID-19 (Coronavirus Disease 2019). It has been a global health problem due to its major socio-economic damage. The aim of this study was to show the prevalence of gastrointestinal and hepatic manifestations in symptomatic children with COVID-19. Methods: We performed a retrospective study, including 36 symptomatic children infected by SARS-CoV-2 hospitalized at the mother and child hospital of university hospital of Mohammed VI, Marrakech in Morocco, over a period of 7 months. Clinical and biological manifestations of the digestive system were evaluated for all patients. Results: The digestive symptomatology came in second place after the respiratory manifestations. 14 patients (38.89 % of symptomatic patients) in our study had digestive symptoms on admission: 12 (33.33%) presented with diarrhea, 4 (11.11%) had abdominal pain and only one child (2.78%) had vomiting. Aspartate aminotransferase (AST) was elevated in one patient, while alanine transaminase (ALT) was elevated in 6 patients. The prothrombin level was normal in all patients. All patients were discharged with good general condition without morbidity and mortality. Conclusion: This study concludes with the high prevalence of digestive manifestations of COVID-19 in symptomatic children. There were no severe clinical or biological abnormalities in our study. Digestive manifestations during COVID-19 in children are frequent, which requires the awareness of health professionals.
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COVID-19 , Gastroenteropatias , Criança , Humanos , COVID-19/epidemiologia , SARS-CoV-2 , Estudos Retrospectivos , Gastroenteropatias/epidemiologia , Gastroenteropatias/diagnóstico , Vômito/epidemiologia , Vômito/etiologiaRESUMO
Since the outbreak of the COVID-19 pandemic, a significant decrease in non-COVID-19 respiratory illnesses were observed, suggesting that the implementation of measures against COVID-19 affected the transmission of other respiratory pathogens. The aim of this study was to highlight the changes in the epidemiology of respiratory pathogens in children during the COVID-19 pandemic. All children with Severe Acute respiratory illness admitted to the pediatric departments between January 2018 and December 2021 with negative COVID-19 PCR, were enrolled. The detection of respiratory pathogens was made by the Film Array Respiratory Panel. A total of 902 respiratory specimens were tested. A significantly lower positivity rate during the COVID-19 period was found (p = 0.006), especially in infants under 6 months (p = 0.008). There was a substantial absence of detection of Respiratory Syncytial Virus and Influenza A during the winter season following the outbreak of the pandemic (p < 0.05; p = 0.002 respectively). An inter-seasonal resurgence of Respiratory Syncytial Virus was noted. Human Rhinovirus was detected throughout the year, and more prevalent in winter during COVID-19 (p = 0.0002). These changes could be explained by the impact of the implementation of preventive measures related to the COVID-19 pandemic on the transmission of respiratory pathogens in children.
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Epidural lipomatosis (EL) is a pathology characterized by abnormal accumulation of unencapsulated fat in the epidural space. Although rare, it is a possible cause of lumbosciatica or narrow lumbar canal in adults. It is often associated with favorable factors such as prolonged corticosteroid therapy or obesity. We report an observation of an 18-month-old child who presented with walking delay without other abnormalities, and the radiological exploration confirmed the lumbar epidural lipomatosis. The management was mainly symptomatic, based on motor physiotherapy with additional management in neurosurgery. Various etiologies can cause this disease, remain rare in pediatrics, and the idiopathic form is predominant in children.
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Only a few cases in the literature have ever reported the reactivation of the varicella zoster virus (VZV) in children especially in the case of immunocompetent patients. It is an uncommon situation that may lead to several neurological complications. We report varicella zoster virus (VZV) meningitis in a 14-year-old healthy boy with no antecedent of rash. On his cerebrospinal fluid (CSF) examination, VZV DNA was detected. The rapid HIV test was negative. The treatment using acyclovir (20 mg/kg/8h) was effective, and the child's clinical condition rapidly improved.
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Bird fancier's disease falls within the spectrum of hypersensitivity pneumonitis secondary to immuno-allergic reaction to avian antigens. This occurs only rarely in children. It is found in two-thirds of patients with hypersensitivity pneumonitis. Diagnosis is not so easy. It is based on a body of clinical evidence. We here report the peculiar case of a 7-year-old girl with a family history of atopic disease initially treated as asthma based on the presence of wheezing and dyspnea and cough without improvement. The patient had worsening of symptoms such as dyspnea at rest complicated by cyanosis in respiratory distress. All of this took place in a context of alteration of general state. Clinical examination showed growth retardation, perioral cyanosis with digital hippocratism. Lung auscultation revealed bilateral crackling sounds. Chest X-ray objectified bilateral interstitial syndrome. Chest computed tomography (CT) scan showed diffuse ground-glass opacities. Laboratory tests revealed hypereosinophilia with hyper-IgE and excluded tuberculosis, cystic fibrosis, immune deficiency. In a second stage interview contact with birds was reported. Serological tests for bird fancier's disease were positive. The patient received inhaled corticosteroids associated with avoidance of exposure to birds. After a follow-up of 2 months, outcome was favorable. Given that the signs of bird fancier's disease are non-specific, this should be suspected in patients with respiratory symptoms associated with exposure to avian antigens.
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Corticosteroides/administração & dosagem , Pulmão do Criador de Aves/diagnóstico , Asma/diagnóstico , Pulmão do Criador de Aves/tratamento farmacológico , Pulmão do Criador de Aves/fisiopatologia , Criança , Tosse/etiologia , Dispneia/etiologia , Feminino , Seguimentos , Humanos , Sons Respiratórios/etiologia , Tomografia Computadorizada por Raios XRESUMO
Carnitine palmitoyltransferase deficiencies (CPD) are rare and caused by a defect in fatty acid oxidation. We here report the case of a 10-year-old patient with no particular previous history presenting with acute dyspnea associated with productive cough, fever and impaired general condition. The patient was polypneic with tachycardia, mitral systolic murmur and no sign of heart failure. Chest x-ray showed cardiomegaly and echocardiography revealed hypokinetic dilated cardiomyopathy. Carnitine palmitoyltransferase deficiency was diagnosed. Management was based on treatment for heart disease and strict hypopidic and hyperglucidic diet. Three months later, the patient presented with decompensated heart failure due to infection caused by antibiotic-resistant Aeromonas caviae identified in blood culture. CPD should be suspected in patients with dilated cardiomyopathy. This would enable early management which influences prognosis.
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Cardiomiopatia Dilatada/diagnóstico , Carnitina O-Palmitoiltransferase/deficiência , Infecções por Bactérias Gram-Negativas/diagnóstico , Insuficiência Cardíaca/diagnóstico , Aeromonas caviae/isolamento & purificação , Antibacterianos/farmacologia , Criança , Farmacorresistência Bacteriana , Infecções por Bactérias Gram-Negativas/complicações , Infecções por Bactérias Gram-Negativas/microbiologia , Insuficiência Cardíaca/etiologia , Humanos , MasculinoRESUMO
Pneumoblastoma is a rare primary childhood tumor. We report the observation of an infant aged 2 years and 8 months who presented with dry cough and dyspnea. The physical examination found mixed pleural effusion syndrome on the right. The chest X-ray revealed a right pneumothorax. Biology has shown leukocytosis at 16,000/mm3. The CT scan revealed parenchymal air cystic lesions affecting the outer segment of the middle lobe mimicking a pulmonary malformation. Thoracic drainage brought back 100 ml of the fluid. Two months later, when a pyopneumothorax appeared, a medium lobectomy was performed. Pathological study specimen showed a high-grade type II pneumoblastoma The extension assessment identified a secondary hepatic location. Chemotherapy has been indicated. This observation illustrates the diagnosis challenge of pneumoblastoma in children.
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The novel Coronavirus disease 2019 continues to be a worldwide pandemic. Yet, little is still known about the biological features of this emergent infection in children. In this prospective study, we collected 68 children infected with SARS-COV-2 from March 2020 to May 2020, in Marrakesh, Morocco. No severe cases were observed in this cohort, and 66% of the patients were asymptomatic. The main laboratory abnormalities were hematological, as we found Leucopoenia in 4.4% of the cases, hyperleukocytosis in 1.6%. Neutropenia was found in 5 patients (7%) and only 2 cases (3%) had Lymphopenia. The inflammation and coagulation biomarkers were normal in the majority of the cases, as for liver and kidney function. Lactate dehydrogenase (LDH) serum levels were elevated in 8 cases (11.67%). The COVID-19 in children seems to have mild course and better outcome than in adults, which impacts the laboratory findings in this category. More studies must be conducted to learn more about the laboratory abnormalities in pediatric COVID-19.
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Pyomyositis is a pyogenic infection of skeletal muscle with abscess formation. It is a rare disease with nonspecific symptoms which requires a rapid diagnosis and treatment. Magnetic resonance imaging is considered the gold standard for early diagnosis and to rule out other etiologies. This article reports an atypical presentation of pyomyositis revealed by a toxic staphylococcal shock syndrome in an 8-year-old boy.
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Piomiosite/diagnóstico , Choque Séptico/diagnóstico , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Piomiosite/fisiopatologia , Choque Séptico/fisiopatologiaRESUMO
BACKGROUND: A colorimetric microassay for the quantitative determination of galactose in the blood was taken and updated. This method helps in diagnosis and follow-up of several inherited metabolic diseases connected to galactose metabolism deficiency such as galactosemia, glycogenosis, glycosylation, tyrosinemia and citrin deficiency. Galactose assay in the blood presents difficulties due to interference with glucose. In this study, we update a method to get around these difficulties. METHOD: This procedure was based on the incubation of whole blood with orcinol in a strongly acidic solution to form a galactose and glucose complexes able to absorb at two different wavelengths. RESULTS: The standard curve analysis for the individual solutions of these two sugars showed a wide range of linearity from 0 to 200 mg / l. Under optimal experimental conditions, the stirring time of the orcinol is 3 minutes, the heating time of the reaction is 20 minutes at 56 ° C, and the duration of the incubation in the dark is 40 minutes. The analysis is carried out on fresh blood. The maximum absorbance of galactose and glucose is respectively 569 nm and 421 nm. An adapted diagnosis algorithm was developed based on our results. CONCLUSION: this method could help in screening and identifying patients with hypergalactosemia that need further investigations. It could represent a promising method for neonatal screening in countries with limited resources.
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Análise Química do Sangue/métodos , Colorimetria/métodos , Galactose/sangue , Doenças Metabólicas/sangue , Doenças Metabólicas/diagnóstico , Diagnóstico Precoce , Galactose/química , Humanos , Recém-Nascido , Doenças Metabólicas/genética , Triagem Neonatal , Fatores de TempoRESUMO
Acute intussusception is one of the most common causes of intestinal obstruction in infants and small children and involves the invagination of one bowel segment into another. The clinical signs can be deceptively misleading when there is only one symptom or when an unusual symptom is in the foreground, especially in infants less than 1-year-old. We report a case of an infant with an acute intussusception where the neurological symptoms are predominant. The neurological form is the expression of major vascular narrowing of the collar of the intestinal intussusception; this form is rare and misleading and can be responsible for a delayed diagnosis.
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Cerebral venous thrombosis (CVT) is rare in children. Its clinical features and its cause vary. Prognosis is dreadful due to the risk of death and neurosensory sequelae. This study aims to examine the clinical, radiological and etiological profile of CVTs in children and to evaluate the role of antithrombotic treatment. We conducted a retrospective study in the Department of Paediatrics and Paediatric Resuscitation at the Center Hospital University Mohammad VI (CHU) in Marrakech, Morocco, over a period of nine years and ten months (January 2008-October 2018). We collected data from the medical records of all patients aged between 1 months and 15 years with CVT confirmed by imaging. We listed 12 cases of CVT. The average age of patients was 6.4 years. Sex ratio was 1.4. Acute onset occurred in 7 cases. The main clinical features of CVT included seizures (7 cases), focal neurologic signs (7 cases) and signs of intracranial hypertension (IH) (6 cases). CT scan and/or magnetic resonance imaging (MRI) revealed an involvement of the superficial venous network in 8 cases and extended venous involvement in 3 cases. In six cases CVT was caused by an infection, with a case of dehydration, two cases of systemic disease and a case of homocystinuria. However, the cause of the disease was unknown in two patients. Seven children were treated with antithrombotic therapy with good clinico-radiological outcome in 5 cases. Two children died and 3 others had neurological sequelae. In children, CVTs are characterized by a vast variety of clinical features and causes. The effect of anticoagulant therapy was demonstrated despite the absence of a standardized therapeutic protocol.
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Anticoagulantes/administração & dosagem , Trombose Intracraniana/diagnóstico por imagem , Trombose Venosa/diagnóstico por imagem , Adolescente , Criança , Feminino , Humanos , Lactente , Hipertensão Intracraniana/etiologia , Trombose Intracraniana/complicações , Trombose Intracraniana/tratamento farmacológico , Imageamento por Ressonância Magnética/métodos , Masculino , Marrocos , Prognóstico , Estudos Retrospectivos , Convulsões/etiologia , Tomografia Computadorizada por Raios X/métodos , Trombose Venosa/complicações , Trombose Venosa/tratamento farmacológicoRESUMO
This study aims to evaluate the extent of human papilloma virus vaccine awareness among parents of girls in vaccine age group, their acceptability of the vaccine and factors associated with refusal. We conducted a survey among parents of girls aged 8-15 years, followed-up for several diseases in the Department of Pediatrics at the University Hospital Mohamed VI in Marrakech, Morocco, on parents' profile, their awareness of cancer of the cervix, HPV and HPV vaccine, the acceptance of HPV vaccine for their daughters and the arguments related to refusal. Ninety six questionnaires were included in the analysis. Cancer of the cervix was considered frequent for 58% of parents. Only 5% of parents knew about HPV vaccine. Media were the source of information in all cases. Nobody had no idea about the cost of the vaccine and its tolerance. No girl was vaccinated against HPV. Sixty-three per cent of parents want their daughters to be vaccinated, this rate increased by 82% after awareness. Thirteen per cent of the parents were hesitant while 24% refused to vaccinate their daughters mainly due to side effects (51%). Parents refusing vaccine were predominantly males with medium socioeconomic status and cultural level and were unaware of the virus and the vaccine in 91% of cases. This study highlights the reasons for parents' reluctance towards HPV vaccine in order to optimize strategies for effective communication with parents.
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Infecções por Papillomavirus/prevenção & controle , Vacinas contra Papillomavirus/administração & dosagem , Pais/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Adolescente , Criança , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Marrocos , Infecções por Papillomavirus/complicações , Inquéritos e Questionários , Neoplasias do Colo do Útero/prevenção & controle , Neoplasias do Colo do Útero/virologia , Recusa de Vacinação/estatística & dados numéricosRESUMO
Hyper IgM syndrome is a well known genetic (primary) immunodeficiency disorder which was first described in 1961. It is caused by B lymphocyte deficiency characterized by normal or elevated serum IgM levels and low or zero levels of IgG, IgA, IgE resulting from isotype-switching deficiency. Clinical manifestations are dominated by recurrent infections, especially involving the digestive tube of the ENT sphere and the lungs. This syndrome is caused by B-cell immunoglobulin class switch deficiency and decreased capacity to induce proliferation of T lymphocytes. The net result of these deficiencies is reflected in increased susceptibility to Pneumocystis jiroveci, Cryptosporidium spp and other intracellular organisms as well as high rate of bacterial and viral infections. This study aimed to illustrate the importance of understanding the pathophysiological mechanisms associated with this increased susceptibility to infections in order to allow a better diagnosis and therapy in patients with Hyper IgM syndrome (HIM).