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BACKGROUND: Although right ventricular (RV) enlargement may affect RV diastolic dysfunction assessed by end-diastolic forward flow (EDFF) in patients with repaired tetralogy of Fallot (TOF), EDFF may also be modified by left ventricular (LV) hemodynamics. We hypothesized that EDFF is affected by LV hemodynamics, not limited to RV diastolic stiffening.MethodsâandâResults: Among 145 consecutive patients with repaired TOF who underwent catheterization, hemodynamic properties in 47 with consistent EDFF and 75 without EDFF were analyzed. Compared with patients without EDFF, those with EDFF had a large RV volume with a high regurgitant fraction. Although cardiac index and central venous pressure (CVP) were similar, contrast injection augmented CVP and LV end-diastolic pressure (EDP) in patients with vs. those without EDFF, suggesting compromised diastolic reserve. In patients with EDFF, the velocity-time integral (VTI) of EDFF was positively correlated with LVEDP and systemic vascular resistance, in addition to RV EDP. EDFF-VTI was correlated with hepatic venous wedge pressure and markers of hepatic dysfunction. Subanalysis of the older (≥6 years) half of the study cohort revealed that EDFF was associated with bi-atrial enlargement independent of RV volume, highlighting the pronounced role of EDFF on the diastolic property in the aged cohort. CONCLUSIONS: EDFF-VTI in patients with repaired TOF reflects RV diastolic dysfunction, affected by the left heart system. EDFF-VTI indicates blood stagnation, which may be attributed to end-organ damage.
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Tetralogia de Fallot , Disfunção Ventricular Direita , Humanos , Idoso , Diástole , Hemodinâmica , Resistência Vascular , Disfunção Ventricular Direita/complicações , Função Ventricular DireitaRESUMO
Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidylinositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals. Flow cytometric analysis of blood cells and fibroblasts from the affected individuals showed decreased cell surface presence of GPI-anchored proteins. Most of the affected individuals have global developmental and/or intellectual delay, all had seizures, two had polymicrogyria, and four had a peripheral neuropathy. Eight children passed away before four years old. Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency. Most individuals tested showed elevated alkaline phosphatase, which is a characteristic of the inherited GPI deficiency but not DOORS syndrome. It is notable that two severely affected individuals showed 2-oxoglutaric aciduria, which can be seen in DOORS syndrome, suggesting that severe cases of inherited GPI deficiency and DOORS syndrome might share some molecular pathway disruptions.
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Anormalidades Craniofaciais/etiologia , Glicosilfosfatidilinositóis/biossíntese , Glicosilfosfatidilinositóis/deficiência , Deformidades Congênitas da Mão/etiologia , Perda Auditiva Neurossensorial/etiologia , Deficiência Intelectual/etiologia , Manosiltransferases/genética , Doenças Metabólicas/etiologia , Mutação , Unhas Malformadas/etiologia , Doenças do Sistema Nervoso Periférico/etiologia , Convulsões/patologia , Adulto , Criança , Pré-Escolar , Anormalidades Craniofaciais/patologia , Feminino , Glicosilfosfatidilinositóis/genética , Deformidades Congênitas da Mão/patologia , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/patologia , Masculino , Doenças Metabólicas/patologia , Unhas Malformadas/patologia , Linhagem , Doenças do Sistema Nervoso Periférico/patologia , Convulsões/genética , Índice de Gravidade de Doença , Adulto JovemRESUMO
PURPOSE: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. METHODS: Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated. RESULTS: Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments. CONCLUSION: A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.
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Exoma , Malformações do Sistema Nervoso , Criança , Humanos , Exoma/genética , Mutação , Malformações do Sistema Nervoso/genética , Atrofia/genética , Receptor 1 de Folato/genética , CinesinasRESUMO
Identification of arrhythmogenic right ventricular cardiomyopathy (ARVC) during childhood is challenging due to the lack of specific ECG manifestation. We report chronological ECG alteration before several years of the ARVC onset in two affected children. Their ECG at the age of 6 years was almost normal for their age, and their chronological ECGs exhibited inversion of T wave in inferior leads, which are typical for ARVC, developed at younger age than that in precordial leads. In addition, the leftmost T-wave inversion in the precordial lead shifted toward the left in our patients, which is a sharp contrast to its physiological transition.
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Displasia Arritmogênica Ventricular Direita , Criança , Humanos , Displasia Arritmogênica Ventricular Direita/diagnóstico , Eletrocardiografia , Arritmias CardíacasRESUMO
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a better performance has not been fully addressed. ES of 1199 samples including 763 patients with different disease profiles was performed. ES data were analyzed to detect CNVs by both the eXome Hidden Markov Model (XHMM) and modified Nord's method. To efficiently detect rare CNVs, we aimed to decrease sequencing biases by analyzing, at the same time, the data of all unrelated samples sequenced in the same flow cell as a batch, and to eliminate sex effects of X-linked CNVs by analyzing female and male sequences separately. We also applied several filtering steps for more efficient CNV selection. The average number of CNVs detected in one sample was <5. This optimization together with targeted CNV analysis by Nord's method identified pathogenic/likely pathogenic CNVs in 34 patients (4.5%, 34/763). In particular, among 142 patients with epilepsy, the current protocol detected clinically relevant CNVs in 19 (13.4%) patients, whereas the previous protocol identified them in only 14 (9.9%) patients. Thus, this batch-based XHMM analysis efficiently selected rare pathogenic CNVs in genetic diseases.
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Variações do Número de Cópias de DNA , Exoma , Algoritmos , Exoma/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Reprodutibilidade dos Testes , Sequenciamento do ExomaRESUMO
Fusarium graminearum produces trichothecene mycotoxins in infected grains and axenic liquid culture. A proposed regulatory model of trichothecene biosynthesis was examined in relation to nitrogen utilization. First, we showed that an important factor for the stimulation of trichothecene biosynthesis was not the occurrence of agmatine as a specific inducer molecule, but rather continuous acidification of the liquid culture medium arising from agmatine catabolism. When the pH of the L-Gln synthetic medium was frequently adjusted to the pH of the agmatine culture, trichothecene productivity of the L-Gln culture was equal to that of the agmatine culture. For efficient trichothecene biosynthesis, the culture pH should be lowered at an appropriate time point during the early growth stage. Second, we re-evaluated the role of the nitrogen regulatory GATA transcription factor AreA in trichothecene biosynthesis. Since Tri6 encodes a transcription factor indispensable for trichothecene biosynthesis, all fifteen AreA-binding consensus sequences in the Tri6 promoter were mutated. The mutant could catabolize L-Phe as the sole nitrogen source; furthermore, the pH profile of the synthetic L-Phe medium (initial pH 4.2) was the same as that of the wild-type (WT) strain. Under such conditions, the promoter mutant exhibited approximately 72% of the trichothecene productivity compared to the WT strain. Thus, F. graminearum AreA (FgAreAp) is dispensable for the functioning of the Tri6 promoter, but it contributes to the increased production of mycotoxin under mildly acidic conditions to some extent. Further investigations on the culture pH revealed that extremely low pH bypasses the function of FgAreAp.
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Agmatina/metabolismo , Fusarium/genética , Fatores de Transcrição/genética , Tricotecenos/metabolismo , Meios de Cultura/química , Meios de Cultura/farmacologia , Fusarium/metabolismo , Regulação Fúngica da Expressão Gênica/efeitos dos fármacos , Concentração de Íons de Hidrogênio , Nitrogênio/metabolismo , Poliaminas/metabolismo , Fatores de Transcrição/metabolismoRESUMO
Nitrogen sources in media have a significant impact on the onset of secondary metabolism in fungi. For transcriptional activation of many nitrogen catabolic genes, an AreA transcription factor is indispensable. This also holds true for Fusarium graminearum that produces trichothecenes, an important group of mycotoxin, in axenic culture. Despite the presence of numerous consensus AreA-binding sites in the promoters of Tri genes in the trichothecene cluster core region, the effect of medium amino acids on trichothecene biosynthesis is poorly understood. In this study, we examined the effect of certain amino acids, which were predicted to activate AreA function and increase Tri gene transcription, on trichothecene production in liquid culture. By frequent monitoring and adjustments in the pH of the culture medium, including replacement of the spent medium with fresh medium, we demonstrate the suppressive effects of the amino acids, used as the sole nitrogen source, on trichothecene biosynthesis. When the medium pH was maintained at 4.0, Gly, L-Ser, and L-Thr suppressed trichothecene production by F. graminearum. Enhanced trichothecene-inducing effects were observed when the medium pH was 3.5, with only L-Thr suppressing trichothecene synthesis.
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Aminoácidos/metabolismo , Fusarium/metabolismo , Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos , Regulação Fúngica da Expressão Gênica/efeitos dos fármacos , Tricotecenos/biossíntese , Meios de Cultura/química , Fusarium/crescimento & desenvolvimento , Concentração de Íons de HidrogênioRESUMO
A 3-year-old girl presented with muscle weakness of her limbs and trunk 6 days after developing symptoms of common cold. Two days later, she experienced respiratory arrest with a Glasgow Coma Scale score of 3, necessitating endotracheal intubation. Therefore, she was transferred to our hospital with suspected acute encephalopathy. Although no abnormalities were observed on brain and spinal magnetic resonance imaging and electroencephalography, peripheral nerve conduction velocity tests failed to evoke motor and sensory nerve action potentials. Thus, we gave a diagnosis of fulminant Guillain-Barré syndrome and initiated immunoglobulin therapy. On day 3 of admission, she developed sinus tachycardia that induced circulatory failure and oliguria, which was successfully treated with landiolol. Subsequently, we performed plasmapheresis followed by immunoglobulin and steroid pulse therapies. She was weaned off the mechanical ventilator by day 20 of admission, was ambulatory by day 44, and had completely recovered without any adverse sequelae by day 55. In conclusion, landiolol was effective for treating acute sinus tachycardia-induced circulatory failure and played a key role in saving the life of this patient.
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Síndrome de Guillain-Barré/terapia , Antagonistas Adrenérgicos beta/uso terapêutico , Pré-Escolar , Feminino , Glucocorticoides/uso terapêutico , Síndrome de Guillain-Barré/complicações , Humanos , Imunização Passiva/métodos , Imageamento por Ressonância Magnética , Morfolinas/uso terapêutico , Plasmaferese/métodos , Respiração Artificial/métodos , Ureia/análogos & derivados , Ureia/uso terapêuticoRESUMO
BACKGROUND: The survival rate of extremely preterm (EP) infants (<28 weeks of gestation) has improved dramatically, and there is great interest in the long-term prognosis. The aim of this study was to elucidate the influence of prenatal and postnatal care on long-term intellectual outcome in EP infants. METHODS: Subjects were EP infants admitted to the neonatal intensive care unit from 1982 to 2005. The survival rate and neurodevelopmental outcomes at 6 years of age were analyzed for the periods 1982-1991 (period 1) and 1992-2005 (period 2). Logistic regression analysis was performed to examine risk factors for intellectual impairment. RESULTS: Survival rate improved significantly from 84.5% (period 1) to 92.4% (period 2; P = 0.007). Follow-up data were obtained from 92 children in period 1 (69.7% of survivors) and from 245 in period 2 (72.3% of survivors). The incidence of intellectual impairment increased from 16.3% (period 1) to 31.0% (period 2). Significant factors associated with intellectual impairment were period 2 (OR, 3.53; P = 0.007), supplemental oxygen at 36 weeks' corrected age (OR, 2.22; P = 0.012), number of days in the hospital (OR, 1.01; P = 0.012), intraventricular hemorrhage (IVH; OR, 3.05; P = 0.024), and later tube-feeding commencement date (OR, 1.10; P = 0.032). CONCLUSIONS: Despite an increase in survival rate, the rate of intellectual impairment increased in period 2. According to risk factor analysis, reducing the incidence of chronic lung disease and/or apnea, IVH, and nutritional deprivation is a key factor in improving the intellectual outcomes of EP infants.
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Lactente Extremamente Prematuro , Doenças do Prematuro/epidemiologia , Deficiência Intelectual/epidemiologia , Criança , Feminino , Seguimentos , Humanos , Incidência , Recém-Nascido , Doenças do Prematuro/etiologia , Doenças do Prematuro/prevenção & controle , Deficiência Intelectual/etiologia , Deficiência Intelectual/prevenção & controle , Terapia Intensiva Neonatal , Japão/epidemiologia , Modelos Logísticos , Masculino , Assistência Perinatal , Fatores de Risco , Taxa de SobrevidaRESUMO
OBJECTIVES: Aicardi-Goutières syndrome (AGS) is a rare, genetically determined, early onset progressive encephalopathy associated with autoimmune manifestations. AGS is usually inherited in an autosomal recessive manner. The disease is rare, therefore the clinical manifestations and genotype-phenotype correlations, particularly with regard to autoimmune diseases, are still unclear. Here we performed a nationwide survey of AGS patients in Japan and analysed the genetic and clinical data. METHODS: Patients were recruited via questionnaires sent to paediatric or adult neurologists in Japanese hospitals and institutions. Genetic analysis was performed and clinical data were collected. RESULTS: Fourteen AGS patients were identified from 13 families; 10 harboured genetic mutations. Three patients harboured dominant-type TREX1 mutations. These included two de novo cases: one caused by a novel heterozygous p.His195Tyr mutation and the other by a novel somatic mosaicism resulting in a p.Asp200Asn mutation. Chilblain lesions were observed in all patients harbouring dominant-type TREX1 mutations. All three patients harbouring SAMHD1 mutations were diagnosed with autoimmune diseases, two with SLE and one with SS. The latter is the first reported case. CONCLUSION: This study is the first to report a nationwide AGS survey, which identified more patients with sporadic AGS carrying de novo dominant-type TREX1 mutations than expected. There was a strong association between the dominant-type TREX1 mutations and chilblain lesions, and between SAMHD1 mutations and autoimmunity. These findings suggest that rheumatologists should pay attention to possible sporadic AGS cases presenting with neurological disorders and autoimmune manifestations.
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Povo Asiático/genética , Doenças Autoimunes do Sistema Nervoso/genética , Pérnio/genética , Exodesoxirribonucleases/genética , Inquéritos Epidemiológicos , Mutação/genética , Malformações do Sistema Nervoso/genética , Fosfoproteínas/genética , Adolescente , Doenças Autoimunes/genética , Doenças Autoimunes do Sistema Nervoso/epidemiologia , Pérnio/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Genótipo , Humanos , Japão/epidemiologia , Masculino , Proteínas Monoméricas de Ligação ao GTP/genética , Malformações do Sistema Nervoso/epidemiologia , Fenótipo , Proteína 1 com Domínio SAM e Domínio HD , Inquéritos e Questionários , Adulto JovemRESUMO
CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is a rare genetic disorder caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. CAPOS syndrome involves a characteristic episode in which neuropathy develops after a fever in childhood, and here, we describe the case of a patient with CAPOS syndrome. The patient had repeated episodes of a fever around 74 months of age. Although he could speak at 23 months of age, he presented with hearing difficulty after the fever. Pure-tone audiometry revealed moderate-to-severe bilateral sensorineural hearing loss, and auditory brainstem response (ABR) showed poor response in the both ears. Auditory stead-state response (ASSR) produced relatively consistent results compared to pure-tone audiometry. A mutation in the ATP1A3 gene was detected through genetic testing. In CAPOS syndrome, a genetic mutation leads to desynchronization during neural firing. We believe that this desynchronization in neural firing is responsible for the lack of response in the ABR and the presence of a response in the ASSR. In this patient, we attribute the response detection in ASSR to its greater tolerance for errors in the timing of neural firing compared to ABR.
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Audiometria de Tons Puros , Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva Neurossensorial , ATPase Trocadora de Sódio-Potássio , Humanos , Masculino , Perda Auditiva Neurossensorial/genética , ATPase Trocadora de Sódio-Potássio/genética , Febre , Atrofia Óptica/genética , Reflexo Anormal , Ataxia Cerebelar/genética , Ataxia Cerebelar/fisiopatologia , Deformidades Congênitas do Pé/genética , MutaçãoRESUMO
OBJECTIVE: To explore the relationship between symptoms of postpartum depression and the number of remote visitations among mothers of infants in the NICU. DESIGN: Retrospective cohort study. SETTING: NICU in a medical university in Iwate, Japan. PARTICIPANTS: A total of 89 mothers of infants who spent more than 1 month in the NICU from June 2021 to December 2022. METHODS: Participants completed the Edinburgh Postnatal Depression Scale (EPDS) at 4 days and 1 month after birth. We used a one-way analysis of variance with Tukey-Kramer or Games-Howell post hoc tests to examine differences in postpartum depression among three groups based on the frequency of remote visitation: frequent visitation, rare visitation, or no visitation. RESULTS: Of the 89 mothers, 41 scored 9 points or higher on the EPDS conducted 4 days after birth; among them, 14 did not visit, 13 rarely visited, and 14 frequently visited the NICU remotely through a web camera. The rare visitation group had significantly higher EPDS scores 1 month after birth (M = 9.7, SD = 5.2) than the frequent (M = 5.3, SD = 3.7) and no visitation (M = 5.1, SD = 4.2) groups (p < .05). The rare visitation group demonstrated lower improvement on the EPDS than the frequent and no visitation groups (nonsignificant). CONCLUSION: It is unclear whether remote visitation reduces symptoms of postpartum depression; however, the frequency of remote visitation could be assessed to identify at-risk mothers in need of social support.
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BACKGROUND: The persistence of high serum osmolality in the early postnatal period is a risk for developing patent ductus arteriosus (PDA). Early aggressive nutrition (EAN), involving total parenteral nutrition (TPN), by which enough concentrations of glucose and amino acids are administered intravenously, is recommended postnatally to improve the neurological prognosis in preterm infants. However, the effects of EAN involving TPN on serum osmolality and the development of a PDA have not been adequately studied. OBJECTIVES: Thus, in this study, we aimed to investigate the impact of TPN on serum osmolality and determine whether increased serum osmolality could be associated with a higher incidence of PDA in preterm infants. METHODS: In this single-center retrospective observational study, preterm infants born at <28 weeks of gestation who had been admitted to our neonatal intensive care unit (NICU) before (pre-TPN period) and after the introduction of TPN (post-TPN) were included. We reviewed the medical records of these patients, compared the changes in serum osmolality from birth to five days after birth, the clinical background, and the incidence of PDA between these two periods, and analyzed the risk factors. Additionally, the factors affecting the serum osmolality in very preterm infants were examined. The patients who met the intervention criteria of our NICU and received a cyclooxygenase (COX) inhibitor, Indacin® (Nobelpharma, Tokyo, Japan), within seven days after birth were classified as PDA+; those who could not be identified to have PDA flow by echo and did not receive a COX inhibitor were classified as PDA-. RESULTS: The postnatal day and serum sodium (Na+) were statistically significantly correlated with a higher serum osmolality. Serum osmolality remained statistically significantly higher in the PDA+ cohort compared with the PDA- cohort after the first day of life. However, no statistically significant differences were observed in serum osmolality after 24 hours of age, weeks of gestational age, birth weight, or incidence of PDA between the pre- and post-TPN periods. The results of the multiple logistic regression analyses revealed that the increased serum osmolality correlated with PDA development. CONCLUSIONS: In this study, the serum Na+ statistically significantly correlated with a higher serum osmolality. Moreover, the increased serum osmolality correlated with PDA development. Thus, the prevention of hypernatremia might reduce the incidence of PDA. Nonetheless, the findings in this study revealed that no statistically significant differences in serum osmolality were observed between the pre-and post-TPN periods, indicating that TPN had little effect on serum osmolality.
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While atrial septal defect (ASD) may contribute to right ventricular decompression in patients with severe pulmonary hypertension (PH), the pulmonary vasculature might be compromised by increased pulmonary blood flow, even though pulmonary vasodilators successfully reduce resistance. ASD closure is a treatment option that may ameliorate PH symptoms associated with bronchopulmonary dysplasia (BPD) in infants. However, the feasibility of ASD closure is obscure in patients with BPD-PH causing right-to-left shunting. Here, we present an eight-month-old girl with ASD complicated by BPD-PH, in which the pulmonary pressure exceeded the systemic pressure; the ASD was successfully closed after pulmonary preconditioning with dexamethasone and high-dose diuretics. Our patient was delivered as the third baby in triplets at a gestational age of 25 weeks, with a birth weight of 344 g. She was diagnosed with BPD at three months of age (37 weeks of postmenstrual age) with a body weight of 1.4 kg. Mild pulmonary hypertension was identified at the age of five months, and oral sildenafil was initiated. While her atrial septal defect was small at the time of PH diagnosis, it became hemodynamically significant when she grew up to 3.4 kg of body weight, at seven months after birth. Her estimated right ventricular pressure was apparently more than the systemic pressure, and oxygen saturation fluctuated between 82% and 97% under oxygen supplementation due to bidirectional interatrial shunt with predominant right-to-left shunting. Pulmonary preconditioning lowered the estimated right ventricular pressure to almost equal the systemic pressure and elevated arterial oxygen saturation while also suppressing right-to-left shunting. Cardiac catheterization after preconditioning revealed a ratio of pulmonary blood pressure to systemic blood pressure ratio (Pp/Ps) of 0.9, pulmonary resistance of 7.3 WU-m2, and a pulmonary to systemic blood flow ratio (Qp/Qs) of 1.3 (approximately 1.0 in the normal circulation without significant shunt), with the cardiac index of 2.8 L/min/m2. The acute pulmonary vasoreactivity test against the combination of 20 ppm nitric oxide and 100% oxygen was negative, although the patient had consistently high pulmonary flow with makeshift improvements after preconditioning. Despite the high pulmonary resistance even after preconditioning, aggressive ASD closure was performed so that pulmonary flow could be consistently suppressed regardless of the pulmonary condition. Her Pp/Ps under 100% oxygen with 20 ppm nitric oxide was 0.7 immediately after closure. After two years of follow-up, her estimated right ventricular pressure was less than half of the systemic pressure with the use of three pulmonary vasodilators, including sildenafil, macitentan, and beraprost. A strategy to temporarily improve PH and respiratory status aimed at ASD closure could be a treatment option for the effective use of multiple pulmonary vasodilators, by which intensive treatment of BPD can be achieved.
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We reported a dichorionic diamniotic placental twin (DD twin) with a family history of a congenital nephrotic syndrome of the Finnish type (CNF), of which the parent had heterozygous for the NPHS1 gene mutation. The DD twin was born at 36 weeks gestation, and their fused placenta weighed 1,340 g. Although the first-born child had heavy proteinuria and hypoalbuminemia and needed daily albumin replacement to manage severe edema, the second had only mild proteinuria after birth. Genetic testing performed 28 days after birth detected homozygous for the NPHS1 gene mutation in only the first-born child but not in the second, which resulted in performing invasive left nephrectomy and peritoneal dialysis (PD) to manage edema in the first. For DD twins with a family history of CNF, prenatal diagnosis of CNF may be difficult. Therefore, close postnatal clinical observation and early genetic testing are essential for the diagnosis of CNF.
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Two preterm infants with athetoid cerebral palsy due to bilirubin encephalopathy were examined by magnetic resonance spectroscopic imaging at age 3 years. An increased glutamate/glutamine complex/creatine ratio was found in the basal ganglia. Chemical metabolic abnormalities of the basal ganglia were clearly demonstrated by color-coded metabolite images.
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Gânglios da Base/metabolismo , Doenças do Prematuro/diagnóstico , Kernicterus/diagnóstico , Espectroscopia de Ressonância Magnética , Prótons , Feminino , Glutamatos/metabolismo , Glutamina/metabolismo , Humanos , Recém-Nascido de Baixo Peso/metabolismo , Recém-Nascido , Recém-Nascido Prematuro/metabolismo , Doenças do Prematuro/metabolismo , Kernicterus/metabolismo , Masculino , GravidezRESUMO
PURPOSE: Growing skull fractures can be a challenging surgical problem facing pediatric neurosurgeons. The goal of this manuscript was to describe an effective surgical method used to treat a growing skull fracture. METHODS: We present a case study of a 2-month-old boy who fell from his mother's arms and hit his head on the floor; he underwent X-ray, magnetic resonance (MR), and computed tomography (CT) imaging before cranioplasty with dural plasty. RESULTS: X-ray performed on admission revealed a diastatic fracture with a gap of 8 mm in the right frontal bone and a linear fracture in the right occipital bone. X-ray performed 37 days after injury demonstrated that the gap had increased to 25 mm, and the patient was diagnosed with a growing skull fracture of the right parietal bone. Cranioplasty with dural plasty was performed on day 39. A combination of MR and CT images enabled the edge of the dural tear to be plotted on a three-dimensional image of the skull, and this was used to estimate the location of the edge of the dural tear on the scalp. CONCLUSIONS: We achieved excellent outcomes in terms of bony coverage and dural plasty. The combination of MR and CT images may be recommended for surgical repair of growing skull fracture in children.
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Imageamento por Ressonância Magnética , Fraturas Cranianas/diagnóstico , Humanos , Imageamento Tridimensional , Lactente , Masculino , Fraturas Cranianas/cirurgia , Tomografia Computadorizada por Raios XRESUMO
We report the case of a child with a venous malformation (VM), in whom streptococcal toxic shock syndrome (STSS) developed from cellulitis. A six-year-old boy with VM of the left lower limb had a fever and left lower limb pain since the afternoon of the day before admission. He presented with swelling, redness, heat, and tenderness on an area extending from the sole of the foot to the lower leg on the left side. Disturbance of consciousness gradually appeared, and he was admitted to the intensive care unit. We administered intravenous antibiotics and an immunoglobulin. On day two of hospitalization, group A hemolytic streptococci were detected in the blood culture. We managed the patient in coordination with a plastic surgeon for consideration of surgical interventions. The local findings subsequently improved to change the antibiotics promptly without debridement, and he was discharged after 14 days of antibiotic therapy. In this case, the VM may have contributed to the worsening of the infection. In children with VM, soft tissue inflammation with local pain and fever must be treated promptly, with the expectation of prompt surgical intervention, because the condition can progress to sepsis and necrotizing fasciitis.
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AIM: This study investigated factors that can predict chromosomal abnormalities in pregnant women with polyhydramnios. The ability of prenatal factors to predict chromosomal abnormalities was evaluated using receiver operator characteristic curves. METHODS: Of 76 eligible pregnant women, major anomalies were detected in 41 (54%) and chromosomal abnormalities in 19 (25%): trisomy 13 in one, trisomy 18 in 10, trisomy 21 in seven, and 22q11.2 deletion syndrome in one. Combined factor scores, including maternal age, major anomaly, abdominal circumference percentile, femur length percentile, and estimated fetal weight percentile, proved to be good predictors (area under the curve, 0.81-0.87) of chromosomal abnormalities and showed a sensitivity of 79% and specificity of 75%. CONCLUSION: Combined scores demonstrated more accuracy than individual factors for predicting chromosomal abnormalities. Even if an anomaly is not detected on fetal ultrasonography, in cases with higher scores, chromosomal abnormalities should be suspected, and delivery at a level III facility may be recommended.