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1.
Ann Hematol ; 102(9): 2343-2351, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37400730

RESUMO

Hereditary elliptocytosis (HE) and pyropoikilocytosis (HPP) are considered a group of hemolytic anemias (HE/HPP) due to inherited abnormalities of erythrocyte membrane proteins with a worldwide distribution. Most cases are associated with molecular abnormalities linked to spectrin, band 4.1, and ankyrin. The present study aimed to identify significant molecular signatures on a target panel of 8 genes using whole exome sequencing (WES) in 9 Bahraini patients with elliptocytosis. Case selection was based on presence of anemia not associated with iron deficiency or hemoglobinopathy and demonstrating > 50% elliptocytes in blood smears. The c.779 T > C mutation of SPTA1 (Spectrin alpha), which is a known deleterious missense mutation that inhibits normal association of spectrin molecules to form tetramers, was seen in 4 patients in homozygous (n = 1) and heterozygous (n = 3) states. The αLELY abnormality in association with compound heterozygous mutations in SPTA1 was present in 5 patients (2 associated with the SPTA1 c.779 T > C variant; 3 with c.3487 T > G and various other SPTA1 mutations of uncertain/unknown significance). Seven patients had SPTB (Spectrin beta) mutations, predicted as likely benign by in silico analysis. A novel EPB41 (Erythrocyte Membrane Protein Band 4.1) mutation with potential deleterious impact was also seen. Finally, 2 cases showed an InDel (insertion-deletion mutations) abnormality in the gene that codes for the mechanosensitive ion-channel PIEZO (Piezo Type Mechanosensitive Ion Channel Component 1). PIEZO mutations are reported to cause red cell dehydration but have not been previously described in HE/HPP. Results of this study confirm the involvement of previously reported abnormalities in SPTA1 and suggest possible involvement of other candidate genes in a disorder involving polygenic interactions.


Assuntos
Eliptocitose Hereditária , Humanos , Eliptocitose Hereditária/genética , Espectrina/genética , Mutação , Eritrócitos Anormais
2.
Cancer ; 126(18): 4235-4245, 2020 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-32648950

RESUMO

BACKGROUND: Childhood cancer is a highly curable disease when timely diagnosis and appropriate therapy are provided. A negative impact of the coronavirus disease 2019 (COVID-19) pandemic on access to care for children with cancer is likely but has not been evaluated. METHODS: A 34-item survey focusing on barriers to pediatric oncology management during the COVID-19 pandemic was distributed to heads of pediatric oncology units within the Pediatric Oncology East and Mediterranean (POEM) collaborative group, from the Middle East, North Africa, and West Asia. Responses were collected on April 11 through 22, 2020. Corresponding rates of proven COVID-19 cases and deaths were retrieved from the World Health Organization database. RESULTS: In total, 34 centers from 19 countries participated. Almost all centers applied guidelines to optimize resource utilization and safety, including delaying off-treatment visits, rotating and reducing staff, and implementing social distancing, hand hygiene measures, and personal protective equipment use. Essential treatments, including chemotherapy, surgery, and radiation therapy, were delayed in 29% to 44% of centers, and 24% of centers restricted acceptance of new patients. Clinical care delivery was reported as negatively affected in 28% of centers. Greater than 70% of centers reported shortages in blood products, and 47% to 62% reported interruptions in surgery and radiation as well as medication shortages. However, bed availability was affected in <30% of centers, reflecting the low rates of COVID-19 hospitalizations in the corresponding countries at the time of the survey. CONCLUSIONS: Mechanisms to approach childhood cancer treatment delivery during crises need to be re-evaluated, because treatment interruptions and delays are expected to affect patient outcomes in this otherwise largely curable disease.


Assuntos
COVID-19 , Neoplasias/terapia , África do Norte/epidemiologia , Ásia Ocidental/epidemiologia , COVID-19/epidemiologia , Criança , Estudos Transversais , Atenção à Saúde , Pessoal de Saúde/organização & administração , Pessoal de Saúde/estatística & dados numéricos , Hospitais/estatística & dados numéricos , Humanos , Oriente Médio/epidemiologia , Inquéritos e Questionários
3.
J Allergy Clin Immunol Pract ; 7(6): 1970-1985.e4, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30877075

RESUMO

BACKGROUND: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.


Assuntos
Proteínas de Homeodomínio , Síndromes de Imunodeficiência , Adolescente , Adulto , Autoimunidade , Criança , Pré-Escolar , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/terapia , Imunossupressores/uso terapêutico , Lactente , Inflamação , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto Jovem
4.
Thorac Cardiovasc Surg Rep ; 6(1): e10-e14, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28405541

RESUMO

Pleuropulmonary blastoma (PPB) is a rare aggressive malignant tumor of infancy and early childhood. The tumor arises in the lung and pleura and is regarded as a pulmonary dysontogenetic or embryonic neoplasm. Four types are defined in literature. Type I PPB is a rare, cystic lung neoplasm in infants characterized by subtle malignant changes and a good prognosis. Recurrences after type I PPB are usually advanced with a poor prognosis. We report this case to increase awareness about this entity so that the pediatricians, pediatric surgeons, radiologist, and pathologist recognize it early.

5.
Saudi Med J ; 30(5): 667-72, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19417967

RESUMO

OBJECTIVE: To analyze the clinical and serological features of children with systemic lupus erythematosus (SLE) in a major referral center in Bahrain and to assess the comorbidity, its morbidity, and mortality. METHODS: We retrospectively reviewed the medical charts of children with SLE treated in the Pediatric Rheumatology Clinic at Salmaniya Medical Complex, Kingdom of Bahrain from 1998 to 2007. The ethical approval for the study was obtained from the Research Health Committee, Ministry of Health, Kingdom of Bahrain. RESULTS: Thirty-two children with SLE were identified. Thirty-one (96.8%) were Bahrainis. The mean age was 14 +/- 4 years, the mean age of disease onset was 9 +/- 4 years and the mean duration of illness was 7 +/- 5 years. The female to male ratio was 2.5:1. Twenty-five percent of the cases had relatives with SLE. Eight patients (25%) had sickle cell anemia (SCA). Systems involved were as follows: skin (93%), kidney (81%), musculoskeletal system (65%), blood (56%), gastrointestinal tract (31%), central nervous system (31%), lungs and cardiovascular system (21%). Serological tests showed: positive antinuclear antibody in 90.6%, and positive anti double-stranded DNA antibody in 65%. The morbidity rate was 21% (n=7) due to complication and 12.5% (n=4) died. CONCLUSION: Clinical and serological results were comparable with the international studies. Nephritis was the primary cause of morbidity and mortality. Coexistence of SLE with SCA was also reported in other studies and may need further investigation with genetic studies.


Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Encaminhamento e Consulta , Adolescente , Barein , Criança , Humanos , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/patologia
6.
Arthritis Rheum ; 56(3): 960-4, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17330256

RESUMO

Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, 2 unrelated families with Majeed syndrome have been reported. Mutations in LPIN2 have been found in both families. Here we report a third consanguineous family with Majeed syndrome with a novel mutation. The patient, a 3-year-old Arabic girl, had hepatosplenomegaly and anemia as a neonate. At age 15 months, she developed recurrent episodes of fever and multifocal osteomyelitis. In addition, bone marrow aspiration demonstrated significant dyserythropoiesis, suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. A homozygous single-basepair change was detected in the donor splice site of exon 17 (c.2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome.


Assuntos
Anemia Diseritropoética Congênita/genética , Mutação , Proteínas Nucleares/genética , Osteomielite/genética , Dermatopatias/genética , Sequência de Aminoácidos , Anemia Diseritropoética Congênita/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Dados de Sequência Molecular , Osteomielite/diagnóstico , Linhagem , Dermatopatias/diagnóstico , Síndrome
7.
Pediatr Dev Pathol ; 8(5): 593-8, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16211443

RESUMO

Sinus histocytosis with massive lymphadenopathy, or Rosai-Dorfman disease, is a rare histiocytic disorder that typically presents with chronic, self-limiting, cervical lymphadenopathy. We present a case, a diagnostic dilemma for multiple consultation services, of an otherwise well 17-year-old boy without lymphadenopathy who, 8 months after excision of a T9 lytic vertebral lesion and epidural mass that caused cord compression, again presented with cord compression from progressive vertebral disease, recurrent epidural mass, and development of a paraspinal mass and tibial lesion. The excised vertebral and epidural lesions, 2 paraspinal biopsies, and tibial biopsy were interpreted as chronic inflammation until large histiocytes were noted, which were positive for CD68, S100 protein, fascin, and MAC387, and demonstrated characteristic emperipolesis (lymphophagocytosis) that was diagnostic of Rosai-Dorfman disease. This atypical clinical behavior and sites of involvement of multiple bones but not of lymph nodes is unusual and constitutes the aggressive end of the clinical spectrum and a rare cause for cord compression.


Assuntos
Doenças Ósseas/patologia , Osso e Ossos/patologia , Espaço Epidural/patologia , Histiocitose Sinusal/patologia , Compressão da Medula Espinal/patologia , Adolescente , Doenças Ósseas/etiologia , Histiocitose Sinusal/complicações , Histiocitose Sinusal/tratamento farmacológico , Humanos , Imageamento por Ressonância Magnética , Masculino , Prednisona/uso terapêutico , Compressão da Medula Espinal/etiologia , Vértebras Torácicas/patologia , Vértebras Torácicas/cirurgia , Resultado do Tratamento
8.
J Pediatr Hematol Oncol ; 26(3): 197-9, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15125614

RESUMO

Acute febrile neutrophilic dermatosis (Sweet syndrome) has been reported in a few adults receiving all-trans retinoic acid for acute promyelocytic leukemia. The authors report a case of Sweet syndrome associated with the administration of all-trans retinoic acid for acute promyelocytic leukemia in a pediatric patient.


Assuntos
Leucemia Mieloide Aguda/tratamento farmacológico , Síndrome de Sweet/induzido quimicamente , Tretinoína/efeitos adversos , Antineoplásicos/efeitos adversos , Criança , Feminino , Humanos , Pele/patologia , Síndrome de Sweet/patologia , Resultado do Tratamento
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