RESUMO
KIR2DL2 and KIR2DL3 segregate as alleles of a single locus in the centromeric motif of the killer cell immunoglobulin-like receptor (KIR) gene family. Although KIR2DL2/L3 polymorphism is known to be associated with many human diseases and is an important factor for donor selection in allogeneic hematopoietic stem cell transplantation, the molecular determinant of functional diversity among various alleles is unclear. In this study we found that KIR2DL2/L3 with glutamic acid at position 35 (E(35)) are functionally stronger than those with glutamine at the same position (Q(35)). Cytotoxicity assay showed that NK cells from HLA-C1 positive donors with KIR2DL2/L3-E(35) could kill more target cells lacking their ligands than NK cells with the weaker -Q(35) alleles, indicating better licensing of KIR2DL2/L3(+) NK cells with the stronger alleles. Molecular modeling analysis reveals that the glutamic acid, which is negatively charged, interacts with positively charged histidine located at position 55, thereby stabilizing KIR2DL2/L3 dimer and reducing entropy loss when KIR2DL2/3 binds to HLA-C ligand. The results of this study will be important for future studies of KIR2DL2/L3-associated diseases as well as for donor selection in allogeneic stem cell transplantation.
Assuntos
Ácido Glutâmico/genética , Glutamina/genética , Antígenos HLA-C/genética , Células Matadoras Naturais/imunologia , Polimorfismo de Nucleotídeo Único , Receptores KIR2DL2/genética , Receptores KIR2DL3/genética , Alelos , Animais , Linhagem Celular , Citotoxicidade Imunológica , Regulação da Expressão Gênica , Genótipo , Ácido Glutâmico/química , Ácido Glutâmico/imunologia , Glutamina/química , Glutamina/imunologia , Antígenos HLA-C/química , Antígenos HLA-C/imunologia , Humanos , Células Matadoras Naturais/citologia , Camundongos , Camundongos Endogâmicos NOD , Camundongos SCID , Modelos Moleculares , Cultura Primária de Células , Ligação Proteica , Domínios Proteicos , Estrutura Secundária de Proteína , Receptores KIR2DL2/química , Receptores KIR2DL2/imunologia , Receptores KIR2DL3/química , Receptores KIR2DL3/imunologia , Transdução de SinaisRESUMO
Acute leukaemias occur as the result of clonal expansion subsequent to transformation and arrest at a normal differentiation stage of haematopoietic precursors, which commit to a single lineage, such as myeloid or B-lymphoid or T-lymphoid cells. Biphenotypic acute leukaemia (BAL) constitutes a biologically different group of leukaemia arising from a precursor stem cell and co-expressing more than one lineage specific marker. The present report describes a child with unusual co-occurrence of biphenotypic (B-precursor cell and Myeloid) acute leukaemia, haemoglobin E trait and glucose 6-phosphate dehydrogenase (G6-PD) deficiency. To the best of our knowledge, this constellation of haematological conditions in a single child has never been described before.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Hemoglobina E/genética , Imunofenotipagem , Leucemia Aguda Bifenotípica/diagnóstico , Pais/psicologia , Células Precursoras de Linfócitos B/imunologia , Pré-Escolar , Deficiência de Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/imunologia , Hemoglobina E/imunologia , Humanos , Leucemia Aguda Bifenotípica/genética , Leucemia Aguda Bifenotípica/imunologia , Masculino , Prognóstico , Recusa do Paciente ao TratamentoRESUMO
Cayler cardiofacial syndrome is characterised by congenital unilateral hypoplasia of the depressor anguli oris muscle (DAOM) in association with congenital cardiac defects. Hypoplasia of this muscle causes inability to move one corner of the mouth downward and outward while crying or grimacing, giving rise to an 'asymmetric crying face' appearance. A variety of congenital cardiac defects have been described. Occasionally, other organ system anomalies may be additionally present. We present an instance of right-sided hypoplasia of the DAOM in a male newborn, which additionally had dextrocardia as a component of situs inversus totalis. To our knowledge, situs inversus totalis has not been previously documented as a part of this syndrome. Additionally, we reiterate that paediatricians need to be aware that this minor facial anomaly may be associated with severe internal organ system anomalies, with cardiac being most common.
Assuntos
Anormalidades Múltiplas , Paralisia Facial/diagnóstico , Situs Inversus/diagnóstico , Diagnóstico Diferencial , Ecocardiografia , Seguimentos , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Radiografia Abdominal , Fatores de TempoRESUMO
Klebsiella pneumoniae (K. pneumoniae) causing brain abscess in newborn infants is rare. Presented herein, is a 27-day-old male neonate who developed two frontal lobe abscesses in association with K. pneumoniae sepsis and meningitis. Antibiotic susceptibility testing utilizing the double-disk synergy method (Cefotaxime and Amoxycillin-Clavulanate) confirmed the extended spectrum beta-lactamase (ESBL) production by the isolate. He was treated simultaneously with antibiotics (Meropenem and Amikacin) and abscess aspiration through the anterior fontanelle, with less than satisfactory outcome. ESBL producing K. pneumoniae brain abscess in neonates is extremely rare in the English literature. Emperical carbapenems and aminoglycoside coverage in neonates with K. pneumoniae sepsis and brain abscess, especially in areas with high rate of ESBL producing bacteria may be warranted.
Assuntos
Anodontia/complicações , Displasia Ectodérmica Anidrótica Tipo 1/complicações , Displasia Ectodérmica/complicações , Talassemia beta/complicações , Anodontia/diagnóstico , Criança , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica Anidrótica Tipo 1/diagnóstico , Feminino , Humanos , Prognóstico , Talassemia beta/diagnósticoRESUMO
We report a newborn with methicillin-resistant Staphylococcus aureus mediated necrotizing fasciitis after Bacilli-Calmette-Guerin vaccination. Radical debridement of the affected area coupled with twice daily surgical honey dressing and intravenous vancomycin and clindamycin resulted in satisfactory healing.
Assuntos
Vacina BCG/efeitos adversos , Fasciite Necrosante/etiologia , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Infecções dos Tecidos Moles/microbiologia , Infecções Estafilocócicas/microbiologia , Fasciite Necrosante/diagnóstico , Fasciite Necrosante/tratamento farmacológico , Fasciite Necrosante/microbiologia , Feminino , Humanos , Recém-Nascido , Injeções Intradérmicas , Necrose , Infecções dos Tecidos Moles/diagnóstico , Infecções dos Tecidos Moles/terapia , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/terapiaAssuntos
Antipiréticos/uso terapêutico , Aspirina/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Alanina Transaminase/sangue , Paralisia Facial/diagnóstico , Paralisia Facial/tratamento farmacológico , Febre/tratamento farmacológico , Humanos , Recém-Nascido , Humor Irritável , Contagem de Leucócitos , Contagem de Plaquetas , Resultado do TratamentoRESUMO
Transient affliction of the cranial nerves may at times be either the presenting feature or complication of otherwise uncomplicated Kawasaki disease (KD) in infants and children. The present report describes a 6 year 9 month old boy with classical KD who developed right-sided oculomotor nerve palsy (manifested by ipsilateral ptosis and medial rectus palsy) resulting in symptoms like severe nausea, intense frontal headache and double vision. The palsy resolved within 5 days of intravenous immunoglobulin therapy, with no residual ophthalmological abnormality at 6 weeks. Besides increased intracranial pressure, which commonly occurs during the course of KD in children, secondary to aseptic meningitis, intense headache in such children may have cranial nerve paresis as accentuating factors.
Assuntos
Cefaleia/complicações , Síndrome de Linfonodos Mucocutâneos/complicações , Doenças do Nervo Oculomotor/complicações , Oftalmoplegia/complicações , Criança , Humanos , Masculino , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Doenças do Nervo Oculomotor/diagnóstico , Oftalmoplegia/diagnósticoRESUMO
Falciparum malaria is occasionally associated with multiple organ system complications. However, acute pancreatitis rarely occurs as a part of the spectrum. A 13-year-old boy presented with falciparum malaria complicated predominantly by acute pancreatitis. He recovered satisfactorily with supportive measures. To our knowledge, there are less than 10 such documented instances in the literature and they are mostly adults. Acute abdomen in Plasmodium falciparum infection may reveal pancreatitis which should be detected at the earliest.
Assuntos
Malária Falciparum/complicações , Pancreatite/complicações , Plasmodium falciparum/isolamento & purificação , Dor Abdominal/etiologia , Doença Aguda , Adolescente , Analgésicos/uso terapêutico , Antimaláricos/uso terapêutico , Humanos , Malária Falciparum/diagnóstico , Malária Falciparum/tratamento farmacológico , Masculino , Pancreatite/tratamento farmacológico , Tomografia Computadorizada por Raios X , Resultado do TratamentoAssuntos
Anormalidades Múltiplas/diagnóstico , Cisterna Magna/anormalidades , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Displasia Ectodérmica/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Encefalopatias/diagnóstico , Dedos/anormalidades , Humanos , Lactente , Masculino , Síndrome , Dedos do Pé/anormalidadesAssuntos
Síndrome de Linfonodos Mucocutâneos/diagnóstico , Doenças da Unha/diagnóstico , Transtornos da Pigmentação/diagnóstico , Aspirina/uso terapêutico , Pré-Escolar , Quimioterapia Combinada , Feminino , Dedos , Seguimentos , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Doenças da Unha/complicações , Doenças da Unha/tratamento farmacológico , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/tratamento farmacológico , Resultado do TratamentoAssuntos
Malária Falciparum/complicações , Malária Falciparum/patologia , Antimaláricos/administração & dosagem , Artemisininas/administração & dosagem , Artesunato , Criança , Feminino , Gangrena/tratamento farmacológico , Gangrena/parasitologia , Gangrena/patologia , Humanos , Malária Falciparum/tratamento farmacológico , Mefloquina/administração & dosagem , Primaquina/administração & dosagemAssuntos
Vasculite por IgA/etiologia , Vasculite por IgA/terapia , Malária Cerebral/complicações , Malária Cerebral/terapia , Antimaláricos/uso terapêutico , Transfusão de Sangue/métodos , Criança , Terapia Combinada , Seguimentos , Humanos , Vasculite por IgA/microbiologia , Malária Cerebral/diagnóstico , Masculino , Plasmodium falciparum/isolamento & purificação , Doenças Raras , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
India remains endemic for both vivax malaria and tuberculosis. In spite of the high burden of tuberculosis in the country, reports on congenital tuberculosis in the literature are limited. We report herein an unusual instance of co-occurrence of perinatal falciparum malaria and tuberculosis in a 34-day-old female newborn, who presented with symptoms of sepsis. The diagnosis was based on the demonstration of Plasmodium falciparum on peripheral blood smear and tubercle bacilli in gastric aspirate samples. The maternal history for falciparum malaria was positive during her eighth month of pregnancy and the father was an open case of sputum smear-positive pulmonary tuberculosis. She responded dramatically to combined antimalarial and antitubercular chemotherapy. A search for combined etiologies in presumed 'sepsis' in the newborn, guided by history, physical examination, and laboratory investigations, is warranted.
Assuntos
Malária Falciparum/complicações , Tuberculose Pulmonar/complicações , Animais , Antimaláricos/uso terapêutico , Antituberculosos/uso terapêutico , Feminino , Humanos , Índia , Lactente , Malária Falciparum/congênito , Malária Falciparum/tratamento farmacológico , Malária Falciparum/parasitologia , Mycobacterium tuberculosis/efeitos dos fármacos , Plasmodium falciparum/efeitos dos fármacos , Gravidez , Resultado do Tratamento , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/microbiologiaRESUMO
Seckel syndrome (Online Mendelian Inheritance in Man database Number 210600) is the classic prototype of primordial bird-headed dwarfism. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities of the cardiovascular, hematopoietic, endocrine, and central nervous systems are described. The full phenotypic spectrum of this clinically and genetically heterogeneous syndrome is yet to be delineated. Presented herein is a boy 2 years and 5 months old, with Seckel syndrome, born to second-degree consanguineous Muslim parents. In addition to the classic phenotype of the disorder, this patient had both, an open and a closed lip schizencephaly detected on cranial computed tomography (CT) scan. To our knowledge, the association of schizencephaly and Seckel syndrome is not described previously in the English language literature. In addition, presented briefly is a review of the anatomical cerebral cortical malformations associated with this syndrome.
Assuntos
Encéfalo/anormalidades , Nanismo/complicações , Nanismo/patologia , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/patologia , Encéfalo/diagnóstico por imagem , Córtex Cerebral/anormalidades , Córtex Cerebral/diagnóstico por imagem , Pré-Escolar , Deficiências do Desenvolvimento/genética , Nanismo/genética , Humanos , Masculino , Malformações do Desenvolvimento Cortical/genética , Microcefalia/genética , Microcefalia/patologia , Microcefalia/fisiopatologia , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/patologia , Anormalidades Musculoesqueléticas/fisiopatologia , Síndrome , Tomografia Computadorizada por Raios XRESUMO
A 6-year-old boy presented with post-burn like cutaneous scars over the buttocks and the back of thighs, following skin ulceration. Cutaneous polyarteritis (CPA) was diagnosed based on the histopathological examination of the skin biopsy specimen from one of the scars. Such a presentation of childhood CPA, to our knowledge, is not documented in the English literature.