RESUMO
Aim: The primary aim of this study was to determine the risk factors for the occurrence of brachial plexus injury in cases of shoulder dystocia. Secondly, it was aimed to determine the factors affecting the occurrence of permanent sequelae in cases with brachial plexus injury. Subjects and Methods: ICD-10 codes were scanned from the records of patients who gave birth between 2012 and 2018, and the records of patients with brachial plexus injury and shoulder dystocia were reached. Shoulder dystocia cases with brachial plexus damage were accepted as the study group, and shoulder dystocia cases without brachial plexus damage were considered the control group. Shoulder dystocia patients with brachial plexus injury and without injury were compared for 2-year orthopedics clinic follow-up reports, surgical intervention, permanent sequelae status as well as birth data, maternal characteristics, and maneuvers applied to the management of shoulder dystocia. Results: Five hundred sixty births with shoulder dystocia were detected. Brachial plexus injury was observed in 88 of them, and permanent sequelae were detected in 12 of these patients. Maneuvers other than McRobert's (advanced maneuvers) were used more and clavicle fracture was seen more in the group with plexus injury (P < 0.05, P < 0.05, respectively). Logistic regression analysis was performed to determine the risk factors of brachial plexus injury. Brachial plexus injury was observed 4.746 times more in infants who were delivered with advanced maneuvers and 3.58 times more in infants with clavicle fractures at birth. Conclusion: In patients with shoulder dystocia, the risk of brachial plexus injury increased in deliveries in which advanced maneuvers were used and clavicle fracture occurred.
Assuntos
Plexo Braquial , Distocia , Fraturas Ósseas , Distocia do Ombro , Gravidez , Recém-Nascido , Feminino , Humanos , Parto Obstétrico , Distocia/epidemiologia , Distocia/etiologia , Plexo Braquial/lesões , Fraturas Ósseas/epidemiologia , Progressão da Doença , Fatores de RiscoRESUMO
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
Down syndrome (DS), trisomy 21, is the most common numerical chromosome abnormality among live born infants. Dysmorphic features, congenital malformations, cognitive impairment are major features. Musculoskeletal anomalies are associated with abnormal collagen function. Ectrodactyly is characterized by a deep median cleft of the hand and/or foot. Failure of apical ectodermal ridge while developing limbs leads to ectrodactyly. Here we report a patient diagnosed with DS and ectrodactyly which were split between the third and fourth fingers and there were 4 fingers on both hands. There was no additional musculoskeletal anomaly. Karyotype analysis revealed 47,XY,+21. To the best of our knowledge our patient is the first patient with DS and ectrodactyly. Pathogenesis ofmusculoskeletal anomalies in DS and ectrodactyly seems to be different which may be coincidental or not. In conclusion, patients with ectrodactyly should be evaluated for association with syndromes, and it should be kept in mind that patients with Down syndrome may have different organ anomaly from frequently seen anomalies.
Assuntos
Síndrome de Down/genética , Deformidades Congênitas dos Membros/patologia , Comorbidade , Síndrome de Down/epidemiologia , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/epidemiologia , MasculinoRESUMO
BACKGROUND: Invasive fungal sepsis has become the third most common cause of late-onset infections in many neonatal intensive care units (NICU). The prevalence rate ranges from 2.6% to 16.7% among very-low-birth-weight infants and from 5.5% to 20% among extremely low-birth-weight infants. Despite the development of several new antifungal agents in the past few years, the management of serious fungal infections in the newborn continues to be problematic. MATERIALS, METHODS AND RESULTS: Voriconazole treatment was given to 17 newborns with invasive fungal sepsis, in initial doses of 2-3 mg/kg twice daily. In spite of the complications of cholestasis and liver function abnormality in 2, the dose regimen was 4-6 mg/kg (loading dose), followed by initial doses of 2-3 mg/kg twice daily. Drug cessation did not occur, and no permanent side effects were observed. In the end, 12 patients had been cured with antifungal treatment. CONCLUSIONS: Voriconazole at this dosage common with other antifungal agents or alone appears to be a safe and effective antifungal agent for neonatal invasive fungal sepsis. Based on relevant literature, to the best of our knowledge, ours is the largest case series to underline this issue. However, further studies are required to determine the pharmacokinetics (e.g. serum half-life, concentration, time of peak concentration, and distribution) of voriconazole use in newborns.
Assuntos
Antifúngicos/uso terapêutico , Ensaios de Uso Compassivo , Micoses/tratamento farmacológico , Pirimidinas/uso terapêutico , Sepse/tratamento farmacológico , Triazóis/uso terapêutico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Sepse/microbiologia , VoriconazolRESUMO
OBJECTIVE: As scant information is present about the effect of water birth on newborns, we aimed to detect the fetal outcomes of water birth. MATERIALS AND METHODS: A hundred and ninety one among totally 220 newborns who were born by water birth were enrolled. The demographic and clinical features of the patients, birth complications, infection rates and rates of neonatal intensive care unit attendance were evaluated. RESULTS: The mean gestational week and birth weight were 39.2±1.3 weeks and 3326±409 g. 26% of the mothers was primiparous. Birth trauma was observed in three patients (1.6%) as one brachial nerve paralysis, one cord rupture and one cephal hematoma. Six of the patients (3.1%) were admitted to neonatal intensive care unit (NICU); four of whom had respiratory tract problems. CONCLUSIONS: Water birth is a safe method of delivery for the neonates when certain criteria are met.
Assuntos
Parto , Adolescente , Adulto , Infecções Bacterianas/epidemiologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Unidades de Terapia Intensiva Neonatal , Masculino , Gravidez , Centros de Atenção Terciária , ÁguaRESUMO
Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis. We compared the clinical findings of our cases with previously reported patients in the literature.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Cromossomos Humanos Par 9/genética , Humanos , Recém-Nascido , Masculino , Cromossomos em AnelRESUMO
OBJECTIVE: Our aim was to determine the relationship between red blood cell transfusion and necrotising enterocolitis (NEC) in all admitted very low birth weight (VLBW) infants with or without transfusion. STUDY DESIGN: All VLBW neonates were categorised into five groups: (i) subjects that developed NEC <48 h after transfusion (n = 15); (ii) subjects that developed NEC >48 h after transfusion (n = 31); (iii) subjects that were never transfused but developed NEC, (n = 50); (iv) subjects that were transfused but did not develop NEC, (n = 250) and (v) subjects that were neither transfused nor developed NEC (n = 301). RESULTS: A group of 647 infants were enrolled in the study. Mean gestational age and birth weight of the patients were 29 ± 3.1 weeks and 1157 ± 237 g, respectively. The mean age at the onset of NEC in the NEC groups were 20 ± 2.3 days, 12 ± 3 days and 11 ± 2.6 days, respectively (P < 0.05). The mean interval from the last transfusion to the onset of NEC was 16.8 ± 8.8 h in group 1 and 240 ± 50 h in group 2 (P < 0.05). CONCLUSION: In this study, we sought to evaluate all VLBW infants, whether they received a transfusion or not. We suggest that transfusion associated NEC exists, but many other factors influence this multifactorial disease. The age of NEC onset was later in transfused vs non-transfused patients, whereas the interval between transfusion and NEC was shorter in transfused vs non-transfused patients.
Assuntos
Enterocolite Necrosante/etiologia , Transfusão de Eritrócitos/efeitos adversos , Recém-Nascido de Baixo Peso , Recém-Nascido Prematuro , Idade de Início , Feminino , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
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
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.
Assuntos
Anormalidades Múltiplas/diagnóstico , Calcinose/diagnóstico , Doenças das Cartilagens/diagnóstico , Condrodisplasia Punctata/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Anormalidades Maxilofaciais/diagnóstico , Estenose da Valva Pulmonar/diagnóstico , Diagnóstico Diferencial , Evolução Fatal , Humanos , Recém-Nascido , Maxila/anormalidades , Nariz/anormalidadesRESUMO
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/patologiaAssuntos
Doenças do Recém-Nascido/patologia , Síndrome de Marfan/patologia , Feminino , Glaucoma/etiologia , Humanos , Recém-Nascido , Doenças do Recém-Nascido/fisiopatologia , Síndrome de Marfan/complicações , Síndrome de Marfan/fisiopatologia , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Tricúspide/etiologiaRESUMO
We report a newborn with Fryns syndrome and atypical findings like a large midline cleft on forehead. Abnormal findings included congenital left diaphragmatic hernia, prominent forehead, hypertelorism, broad nasal bridge, anteverted nostrils, cleft palate, low set ears, tapered fingers, macrocephaly, congenital heart defect, midline defects and renal anomalies. This is the first case that has a midline cleft on forehead with normal cranial MRI findings.
Assuntos
Testa/anormalidades , Fácies , Evolução Fatal , Hérnia Diafragmática/genética , Hérnias Diafragmáticas Congênitas , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/genética , MasculinoRESUMO
A trisomy 13 case with Robertsonian translocation presenting with atypical findings: Trisomy 13 is an autosomal trisomy caused by the presence of an extra copy of chromosome 13. Anomalies associated with this syndrome are severe mental retardation, coloboma, hypotonia, skeletal anomalies, midline anomalies, facial defects, holoprosencephaly, cardiac defects, omphalocele and polydactyly. Here we report a case of trisomy 13 with Robertsonian translocation, 160 day old, presenting with atypical findings like posterior fusion defect of the vertebra, hyperplasia of the right lobe of the liver, dilatation at pelvicalyxial system, scoliosis and complex heart disease including cardiomyopathy.
Assuntos
Anormalidades Múltiplas/genética , Cardiomiopatias/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 13/genética , Cardiopatias Congênitas/genética , Fígado/anormalidades , Escoliose/genética , Coluna Vertebral/anormalidades , Translocação Genética/genética , Trissomia/genética , Diagnóstico Diferencial , Humanos , Hiperplasia/genética , Lactente , Recém-Nascido , Fígado/patologia , Masculino , Pênis/anormalidades , PolidactiliaRESUMO
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.