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Tortícolis , Humanos , Tortícolis/etiología , Tortícolis/diagnóstico , Niño , Masculino , Limitación de la Movilidad , Enfermedad Aguda , CaminataRESUMEN
Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary to maintain oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans and is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, nine cases have been published. Genetic analysis was not performed for G6PD deficiency in these published patients. We present a case of hemolytic anemia due to G6PD deficiency secondary to newly diagnosed type 1 diabetes mellitus. Genetic testing was performed for the index patient and revealed a previously reported missense pathogenic variant (c.653C>T; p.Ser218Phe) in the G6PD gene.
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Anemia Hemolítica , Diabetes Mellitus Tipo 1 , Glucosafosfato Deshidrogenasa , Humanos , Masculino , Preescolar , Anemia Hemolítica/genética , Diabetes Mellitus Tipo 1/congénito , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Glucosafosfato Deshidrogenasa/genética , Glucosafosfato Deshidrogenasa/metabolismo , Mutación MissenseRESUMEN
OBJECTIVE: Breastfeeding is the principal feeding source in the first years of life. Its targeted rates are not achieved properly, globally. Multifactorial reasons have been reported, but the effect of the facilities in the hospitals including lactation consultation clinics have rarely been discussed. The aim of this study was to assess the effects of breastfeeding education in a first officially organized clinic. This may further help authorities make any necessary interferences and improve public health strategies. MATERIALS AND METHODS: A cross-sectional, interventional study was performed in 100 mothers who were given breastfeeding education and was compared with 100 mothers without education. All of the mothers were interviewed to assess breastfeeding attitudes after 6 months. RESULTS: The study group demonstrated higher exclusive breastfeeding rates than controls (76% and 28%, respectively). Having an education was the most significant factor affecting exclusive breastfeeding duration (P < .05). Complementary feeding, bottles, and pacifiers were introduced significantly earlier in the control group (P < .05) There was a negative association between breastfeeding duration and both bottle and pacifier use (P < .05). CONCLUSION: Lactation consultation at a breastfeeding clinic improved the breastfeeding rate. Extending this project to maternity and children's hospitals will help to achieve the desired national targets in exclusive breastfeeding.
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BACKGROUND: Cerebroretinal microangiopathy with calcifications and cysts formerly known as Coats plus syndrome is a rare multisystemic autosomal recessive disease that affects the eyes, brain, bone, and gastrointestinal system. Intestinal telangiectasia are components of vascular malformations characterized by gastrointestinal system bleedings. Recurrent gastrointestinal system bleedings have been reported as being due to hepatic failure or vascular malformations of the gastrointestinal system tract. CASE: Here we report a patient who presented with recurrent gastrointestinal system bleeding episodes, bilateral exudative retinopathy, intracranial calcification and was diagnosed with Coats plus syndrome. Recurrent gastrointestinal system bleeding was controlled by monthly octreotide treatment. CONCLUSIONS: Coats plus syndrome presenting with vascular malformations should always be kept in mind in a patient with recurrent gastrointestinal bleeding and accompanying systemic physical findings. Octreotide treatment is an important option for patients with life threatening gastrointestinal system bleeding. Long term use of octreotide treatment can be used successfully in selected pediatric cases.
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Quistes del Sistema Nervioso Central , Malformaciones Vasculares , Ataxia , Neoplasias Encefálicas , Calcinosis , Niño , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiología , Humanos , Leucoencefalopatías , Espasticidad Muscular , Octreótido/uso terapéutico , Enfermedades de la Retina , Convulsiones , SíndromeRESUMEN
TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not been associated with a Mendelian disorder. Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmental delay, intellectual disability, speech delay, and seizures. Bioinformatic analyses demonstrate that these variants are rare and likely pathogenic. We found that the Drosophila ortholog of TIAM1, still life (sif), is expressed in larval and adult central nervous system (CNS) and is mainly expressed in a subset of neurons, but not in glia. Loss of sif reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. The TIAM1 reference (Ref) cDNA partially rescues the sif loss-of-function (LoF) phenotypes. We also assessed the function associated with three TIAM1 variants carried by two of the probands and compared them to the TIAM1 Ref cDNA function in vivo. TIAM1 p.Arg23Cys has reduced rescue ability when compared to TIAM1 Ref, suggesting that it is a partial LoF variant. In ectopic expression studies, both wild-type sif and TIAM1 Ref are toxic, whereas the three variants (p.Leu862Phe, p.Arg23Cys, and p.Gly328Val) show reduced toxicity, suggesting that they are partial LoF variants. In summary, we provide evidence that sif is important for appropriate neural function and that TIAM1 variants observed in the probands are disruptive, thus implicating loss of TIAM1 in neurological phenotypes in humans.
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Discapacidad Intelectual , Alelos , Animales , Niño , ADN Complementario , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Drosophila/genética , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Fenotipo , Convulsiones/genética , Proteína 1 de Invasión e Inducción de Metástasis del Linfoma-T/genéticaRESUMEN
Involuntary movement disorders are rare in childhood. Hyperkinetic movement disorders including chorea stand as the leading cause. Although Sydenham chorea is the major diagnosis in most children and adolescents, appropriate differential diagnosis is fundamental for a final decision. A detailed and careful history as well as physical examination is the principal proceeding for accurate diagnosis. Herein, we report on an adolescent girl who was admitted to our hospital with chorea and subsequently diagnosed with systemic lupus erythematosus (SLE). Accompanying joint complaints in the patient's history, including growth retardation noticed during a physical examination and bicytopenia recognized in laboratory evaluation, increased the suspicion of SLE rather than Sydenham chorea in the patient. Central nervous system involvement defined as neuropsychiatric lupus presents wide clinical findings varying from stroke and seizures to psychosis and cognitive dysfunction. Although disease activity, persistently positive anticardiolipin antibodies, and lupus anticoagulant positivity are reported to be the most important risk factors in neuropsychiatric lupus, they are not always directly correlated. We present this patient in order to draw attention to the importance of physical examination and history in the differential diagnosis of chorea in childhood.
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Corea , Lupus Eritematoso Sistémico , Vasculitis por Lupus del Sistema Nervioso Central , Adolescente , Anticuerpos Anticardiolipina , Niño , Corea/diagnóstico , Corea/etiología , Diagnóstico Diferencial , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Vasculitis por Lupus del Sistema Nervioso Central/complicaciones , Vasculitis por Lupus del Sistema Nervioso Central/diagnósticoRESUMEN
Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering of endosomes, lysosomes, and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome." Here, we report two siblings from a consanguineous Turkish-Arabic family, who have overlapping features of MPS and intracellular trafficking disorders, including short stature, coarse facies, developmental delay, peripheral neuropathy, splenomegaly, spondylar dysplasia, congenital neutropenia, and high-normal glycosaminoglycan excretion. Whole exome sequencing and familial segregation analyses led to the homozygous NM_022575.3:c.540G>T; p.Trp180Cys variant in VPS16 in both siblings. Multiple bioinformatic methods supported the pathogenicity of this variant. Different monoallelic null VPS16 variants and a homozygous missense VPS16 variant had been previously associated with dystonia. A biallelic intronic, probably splice-altering variant in VPS16, causing an MPS-plus syndrome-like disease has been very recently reported in two individuals. The siblings presented herein display no dystonia, but have features of a multisystem storage disorder, representing a novel MPS-plus syndrome-like disease, associated for the first time with VPS16 missense variants.
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Mucopolisacaridosis/genética , Mutación Missense , Proteínas de Transporte Vesicular/genética , Anomalías Múltiples , Femenino , Homocigoto , Humanos , Lactante , Masculino , Mucopolisacaridosis/patología , Linaje , Fenotipo , Hermanos , SíndromeRESUMEN
OBJECTIVES: Lumbar puncture (LP) is fundamental for diagnosis and treatment; however, some parents do not provide consent for their children to undergo the procedure, which can make diagnosis and determination of the optimal treatment difficult. The present study aimed to describe the level of knowledge and attitudes toward LP of parents whose children were scheduled to undergo the procedure. METHODS: A prospective cross-sectional descriptive study of a convenience sample of parents of 84 children aged 2 months to 17 years scheduled for LP at a single academic children's hospital between 2015 and 2017. Parents were administered a written survey and interviewed by a physician other than the person who did the LP. Data on parental level of knowledge and attitudes regarding LP, in addition to reasons for refusal, were collected.The parents of 84 patients scheduled for LP due to various indications were administered a face-to-face survey interview. The survey was used to collect parental demographic data, as well as opinions and knowledge about LP and postinterventional complications. RESULTS: The mean age of the 84 patients (57% male and 43% female) was 6.4 ± 5.17 years. Lumbar puncture was planned for the presumptive diagnosis of neurological disease in 45.25% of the patients, central nervous system infection in 45.25%, and acute encephalopathy in 9.5%. Among the parents, 65% (n = 55) had no knowledge or attitude about LP prior to the survey interview. The most common parental concern related to LP was paralysis (25%), followed by infertility (2%), mental retardation (1%), and disease progression (1%). Only 4.7% of the parents did not provide consent for their child to undergo LP. CONCLUSIONS: We found that most parents had little knowledge about LP, and the most common parental concern was paralysis. Despite this, in our study, only 5% of parents did not consent to LP.
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Padres , Punción Espinal , Actitud , Niño , Preescolar , Estudios Transversales , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Lactante , Masculino , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.
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Hipocalcemia/tratamiento farmacológico , Deficiencia de Magnesio/tratamiento farmacológico , Deficiencia de Magnesio/genética , Óxido de Magnesio/farmacología , Canales Catiónicos TRPM/genética , Preescolar , Humanos , Hipocalcemia/etiología , Deficiencia de Magnesio/complicaciones , Óxido de Magnesio/administración & dosificación , MasculinoRESUMEN
Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children. This is a descriptive study that analyzed the demographic data, clinical findings, treatment/management data, and mortality data of 728 refugee children aged between 1 month and 18 years who were hospitalized in a tertiary pediatric hospital between 2013 and 2018. During the 5 year duration of this study (2013-2018), there were 12,031 patients hospitalized in the department of general pediatrics. Of these patients, 728 (6%) were refugee children [median age 1.2 (IQR 4.4) years]. The most frequent ethnic origin was Syrian, followed by Iraqi and Afghan [465 (63.87%); 174 (23.9%), and 39 (5.3%), respectively]. The median duration of hospitalization was 6 (IQR 6) days. Those refugee patients who were hospitalized in the pediatric intensive care unit were significantly younger [median age 3.7 (IQR 9.4) years]. The mortality rate in the department of general pediatrics was 16.4% for refugee patients and 8.6% for non-refugee patients (p = 0.001). A logistic regression model revealed that factors associated with mortality included younger age (OR 1.6; CI 1.2-2.1) and being a refugee (OR 2.1; CI 1.3-3.2). Our study revealed detailed knowledge about demographic, clinical, and mortality data, with the largest known series about refugee children in the literature. The results show that mortality rates are significantly higher in refugee pediatric patients who are hospitalized in Turkey than in non-refugee patients.
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Hospitales Pediátricos , Trastornos Mentales , Pediatría , Refugiados , Niño , Preescolar , Humanos , Lactante , TurquíaAsunto(s)
COVID-19 , Pandemias , Niño , China , Atención a la Salud , Hospitalización , Humanos , Pandemias/prevención & control , Cuarentena , SARS-CoV-2 , Turquía/epidemiologíaRESUMEN
CHLAMYDOPHILA PNEUMONIAE: , a common cause of respiratory tract infections, rarely leads to serious conditions. A 13-year-old boy with serologically confirmed C. pneumoniae infection presented with pneumonia complicated by pericardial and bilateral pleural effusions. He had a large haemorrhagic pericardial effusion from which 1000 ml of fluid was aspirated over 10 days and a right haemorrhagic pleural effusion which required a chest drain and the removal of 700 ml over 5 days. The addition of clarithromycin to ceftriaxone appeared to enhance recovery. As far as we are aware, this is the first report in the English literature of massive haemorrhagic pericardial and pleural effusions in children owing to C. pneumoniae infection.
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Ceftriaxona/uso terapéutico , Neumonía por Clamidia/complicaciones , Neumonía por Clamidia/microbiología , Claritromicina/uso terapéutico , Pericarditis/microbiología , Pericarditis/patología , Adolescente , Ceftriaxona/administración & dosificación , Chlamydophila pneumoniae/inmunología , Chlamydophila pneumoniae/aislamiento & purificación , Claritromicina/administración & dosificación , Humanos , Inmunoglobulina G/química , Inmunoglobulina G/metabolismo , Inmunoglobulina M/química , Inmunoglobulina M/metabolismo , Masculino , Esputo/químicaRESUMEN
Complex regional pain syndrome is a condition of uncertain etiology characterized by spontaneous or stimulus-induced pain that is out of proportion to the inciting event. We report a 14-year-7-month-old girl with swelling of the left hand and wrist, was diagnosed as complex regional pain syndrome. The patient was treated successfully with physical therapy and non-steroidal anti-inflammatory drugs. This condition should be kept in mind in the differential diagnosis of musculoskeletal non-inflammatory and inflammatory pains.