RESUMO
The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI.
Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Hipopituitarismo/genética , Doenças Renais Císticas/genética , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Agenesia do Corpo Caloso/diagnóstico , Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/patologia , Encéfalo/anormalidades , Encéfalo/patologia , Anormalidades do Olho/diagnóstico , Humanos , Hipopituitarismo/diagnóstico , Recém-Nascido , Doenças Renais Císticas/diagnóstico , Imageamento por Ressonância Magnética , Masculino , PrognósticoRESUMO
INTRODUCTION: Neonatal sepsis remains an important clinical syndrome despite advances in neonatology. Current hematology analyzers can determine cell volume (V), conductivity for internal composition of cell (C) and light scatter for cytoplasmic granularity and nuclear structure (S), and standard deviations which are effective in the diagnosis of sepsis. Statistical models can be used to strengthen the diagnosis. Effective modeling of molecular activity (EMMA) uses combinatorial algorithm of the selection parameters for regression equation based on modified stepwise procedure. It allows obtaining different regression models with different combinations of parameters. METHODS: We investigated these parameters in screening of neonatal sepsis. We used LH780 hematological analyzer (Beckman Coulter, Fullerton, CA, USA). We combined these parameters with interleukin-6 (IL-6) and C-reactive protein (CRP) and developed models by EMMA. RESULTS: A total of 304 newborns, 76 proven sepsis, 130 clinical sepsis and 98 controls, were enrolled in the study. Mean neutrophil volume (MNV) and volume distribution width (VDW) were higher in both proven and clinical sepsis groups. We developed three models using MNV, VDW, IL-6, and CRP. These models gave more sensitivity and specificity than the usage of each marker alone. CONCLUSIONS: We suggest to use the combination of MNV and VDW with markers such as CRP and IL-6, and use diagnostic models created by EMMA.
Assuntos
Núcleo Celular/patologia , Grânulos Citoplasmáticos/patologia , Modelos Biológicos , Triagem Neonatal/métodos , Neutrófilos/patologia , Sepse/diagnóstico , Proteína C-Reativa/análise , Núcleo Celular/química , Forma do Núcleo Celular , Tamanho Celular , Grânulos Citoplasmáticos/química , Diagnóstico Precoce , Condutividade Elétrica , Feminino , Citometria de Fluxo , Humanos , Lactente , Recém-Nascido , Interleucina-6/sangue , Masculino , Neutrófilos/química , Reprodutibilidade dos Testes , Fatores de Risco , Sensibilidade e Especificidade , Sepse/sangue , Sepse/epidemiologia , Sepse/patologia , Turquia/epidemiologiaRESUMO
Midgut volvulus is a life-threatening condition that commonly presents during the first year of life rarely antenatally. Here we report successful urgent surgical management of an unusual case with malrotation exhibiting the sonographic findings of volvulus in utero that leads to premature birth. This 34-wk, 2700 g infant was born via spontaneous vaginal delivery. Prenatal ultrasound showed polyhydramnios and 30 x 40 mm cystic lesion showing whirlpool sign in abdomen that made us think midgut volvulus. The patient had distended abdomen with skin discoloration. An emergency surgical management was performed showing malrotation, volvulus and a 15 cm ischemic necrotic region of terminal ileum.
Assuntos
Volvo Intestinal/cirurgia , Anormalidade Torcional/cirurgia , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Recém-Nascido , Volvo Intestinal/diagnóstico por imagem , Gravidez , Anormalidade Torcional/diagnóstico por imagemRESUMO
INTRODUCTION: In neonates, the influence of surgery on the inflammatory response has not been fully characterized and it remains difficult to differentiate an inflammatory response from sepsis. In this study, we evaluated changes in interleukin-6 (IL-6) and C-reactive protein (CRP) in neonates undergoing different major abdominal surgeries who had a normal postoperative course without infection. MATERIAL AND METHODS: In total, 43 neonates undergoing major abdominal surgery owing to congenital malformations involving the gastrointestinal tract, and who did not show blood culture positivity were enrolled in the study. As a control group, 40 neonates with proven sepsis were enrolled in the study over the same period. Blood samples for IL-6, CRP, and white blood cell count (WBC) determination were drawn before surgery and 48, 96, and 144 h [postoperative days (POD) 2,4, and 6] after surgery. RESULTS: There was a statistically significant increase in IL-6 concentrations on POD 2 compared with preoperative levels (p < 0.05). After POD 2, IL-6 levels decreased to preoperative levels. There was a statistically significant increase in CRP concentrations on POD 2, 4, and 6 (p < 0.05). Levels of CRP tended to be higher after surgery, and began to fall by the 6th day, but were still statistically higher than preoperative levels. In the sepsis group, CRP concentrations on day 6 were lower than in the surgery group (p < 0.05). White blood cell counts did not show statistically significant differences preoperatively versus postoperatively. CONCLUSIONS: In contrast to previous studies, our results show high levels of IL-6 on POD 2 and CRP on POD 6. It is important to differentiate between the diagnoses of sepsis and postoperative inflammation, because of the need to treat the infection. High levels of IL-6 and CRP are not always associated with sepsis after major abdominal surgeries, but may instead be associated with the inflammatory response and multiorgan dysfunction. Further studies are needed to better differentiate sepsis from inflammatory responses in patients undergoing other surgeries.
Assuntos
Sepse/diagnóstico , Reação de Fase Aguda , Proteína C-Reativa/análise , Procedimentos Cirúrgicos do Sistema Digestório , Feminino , Humanos , Recém-Nascido , Interleucina-6/análise , Masculino , Estudos Prospectivos , Sepse/patologiaRESUMO
Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.