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Objective: The aim of this study was to determine the vestibular function of children diagnosed with specific learning disorders (SLD). Methods: This study was conducted with 30 children diagnosed with SLD and 30 healthy children matched for age and sex, and vestibular tests were applied. Results: Optokinetic and head shake test values in videonystagmography subtests were found to be pathological in the study group, and the lateral asymmetry value in video head impulse test (v-HIT) was found to be significantly higher in the study group. Also, a significant difference was found in the N1 latency, P1-N1 interlatency, P1-N1 amplitude values in the cervical vestibular evoked myogenic potential test, and asymmetry values in the ocular vestibular evoked myogenic potential test. Conclusion: The current study showed that vestibular functions may differ from normal in SLD patients and that vestibular dysfunction may play a role in symptoms such as postural instability, balance, and gross and fine motor disorders that are frequently observed in these children.
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BACKGROUND: Celiac disease rarely presents with edema, hypoalbuminemia, acute metabolic deterioration, and electrolyte imbalances. This life-threatening condition is defined as a celiac crisis and may mimic disorders with metabolic derangement and sepsis. The crisis may present at onset or develop in celiac disease patients with poor compliance to a gluten-free diet. The fluid resuscitation and replacement of electrolyte deficits are life-saving modalities. CASE: A 14-month-old girl was admitted with fever, lethargy, severe dehydration, edema, hypotension, and commenced sepsis therapy. However, the patient had a growth delay and loss of weight with diarrhea and delayed motor skills. On admission, laboratory evaluation showed anemia, coagulopathy, hypoalbuminemia, electrolyte disturbances, and metabolic acidosis and developed thrombocytopenia during follow-up. The celiac serological tests and upper gastrointestinal endoscopic duodenal mucosa appearance, and duodenum histopathology findings suggested celiac disease. CONCLUSIONS: This case highlights that a celiac patient may present with a severe illness like sepsis and may be associated with cytopenia and coagulopathy in the celiac crisis.
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Doença Celíaca , Hipoalbuminemia , Trombocitopenia , Feminino , Humanos , Criança , Lactente , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Hipoalbuminemia/complicações , Diarreia , Dieta Livre de Glúten , Trombocitopenia/diagnóstico , Trombocitopenia/etiologia , EdemaRESUMO
BACKGROUND: This study aimed to investigate the prevalence of smoking, alcohol, and substance abuse disorders among adolescents hospitalized in a university hospital child and adolescent psychiatry inpatient unit with different diagnoses, and to determine the rates of these disorders according to the mental illness diagnosis groups. METHODS: The study was conducted with 346 adolescents aged 12-18 who had been hospitalized with any psychiatric diagnosis between September 2016 and January 2020 in the child and adolescent psychiatry inpatient unit. The study considered the psychiatric diagnoses, based on the results of the DSM-5-based psychiatric interview; sociodemographic and clinical characteristics; the psychopathology history of first-degree relatives; comorbidities; length of hospital stay; income levels, and smoking, alcohol, and substance abuse. RESULTS: Twenty-four percent (n=83) of the participants had been smoking for 18 months or longer, 6.9% (n=24) were using alcohol, and 1% (n=28) were substance abusers. When the diagnosis distributions were examined, smoking was found to be higher in those with depressive disorders and trauma and related disorders, while smoking, alcohol, and substance use were found to be higher in the disruptive behavior disorder group. Smoking was found to be significantly lower in the obsessive-compulsive disorder group. CONCLUSIONS: Smoking, alcohol, and substance use among inpatient children and adolescents may worsen their existing psychopathology, so health professionals working in this field should consider this situation.
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Transtornos Mentais , Transtornos Relacionados ao Uso de Substâncias , Criança , Adolescente , Humanos , Pacientes Internados , Psiquiatria do Adolescente , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/diagnóstico , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Comorbidade , Fumar/efeitos adversos , Fumar/epidemiologia , EtanolRESUMO
BACKGROUND: Currently, there is no comprehensive and multidisciplinary recommendation study covering all aspects of pediatric dysphagia (PD). This study aimed to generate PD management recommendations with methods that can be used in clinical practice to fill this gap in our country and in the world, from the perspective of experienced multidisciplinary experts. METHODS: This recommendation paper was generated by a multidisciplinary team, using the seven-step process and a three-round modified Delphi survey via e-mail. First, ten open-ended questions were created, and then detailed recommendations including management, diagnosis, treatment, and follow-up were created with the answers from these questions. Each recommendation item was voted on by the experts as overall consensus (strong recommendation), approaching consensus (weak recommendation) and divergent consensus (not recommended). RESULTS: In the 1st Delphi round, a questionnaire of 414 items was prepared based on the experts' responses to ten open-ended questions. In the 2nd Delphi round, 59.2% of these items were accepted as pre-recommendation. In the 3rd Delphi round, 62.6% of 246 items were accepted for inclusion in the proposals. The final version recommendations consisted of 154 items. CONCLUSIONS: This study includes comprehensive and detailed answers for every problem that could be posed in clinical practice for the management of PD, and recommendations are for all pediatric patients with both oropharyngeal and esophageal dysphagia.
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Transtornos de Deglutição , Criança , Consenso , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/terapia , Técnica Delphi , Humanos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by symptoms such as limited, and repetitive behavior patterns and disordered social interaction and communication. The etiology of Autism Spectrum Disorder (ASD) is not clearly known, it has been emphasized that the immune-inflammatory system may also play a role in this disease. This study aimed to evaluate in intestinal permeability, food antigen-antibody levels, inflammatory processes, and neuron damage in patients with ASD. SUBJECTS AND METHODS: Thirty-five children between the ages of 3-12 with ASD and 35 controls were included in the study. Both participants' height and weight were measured, and the parents filled the Socio-demographic Data and the Gastrointestinal Systems (GIS) Symptoms Form. Venous blood samples were collected, and serum zonulin, anti-gliadin Ig A and Ig G, IL6, TNF-alpha, TGF- ß, S100B, and NSE levels were measured by ELISA. RESULTS: Serum zonulin levels in the ASD group were found to be significantly lower. IL-6 and TGF-ß were found to be significantly higher in the ASD group. There was no difference between the two groups in terms of serum anti-gliadin Ig A and Ig G and TNF-alpha values. Also, GIS symptoms, NSE and S100B levels were found similar between two groups. CONCLUSIONS: Although findings showing low zonulin levels and increased inflammatory processes in ASD were found in this study, no difference was found in the parameters of brain damage. The findings show that intestinal permeability does not decrease in ASD and that inflammatory processes may play a role in ASD.
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Transtorno do Espectro Autista , Criança , Pré-Escolar , Haptoglobinas , Humanos , Neurônios , Precursores de Proteínas , Fator de Necrose Tumoral alfaRESUMO
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Corroborating in silico prediction, variants either abolished UNC45A expression or altered protein conformation. Myosin VB was identified by mass spectrometry as client of the UNC45A chaperone and was found misfolded in UNC45AKO Caco-2 cells. In keeping with impaired myosin VB function, UNC45AKO Caco-2 cells showed abnormal epithelial morphogenesis that was restored by full-length UNC45A, but not by mutant alleles. Patients and UNC45AKO 3D organoids displayed altered luminal development and microvillus inclusions, while 2D cultures revealed Rab11 and apical transporter mislocalization as well as sparse and disorganized microvilli. All those features resembled the subcellular abnormalities observed in duodenal biopsies from patients with microvillus inclusion disease. Finally, microvillus inclusions and shortened microvilli were evidenced in enterocytes from unc45a-deficient zebrafish. Taken together, our results provide evidence that UNC45A plays an essential role in epithelial morphogenesis through its cochaperone function of myosin VB and that UNC45A loss causes a variant of microvillus inclusion disease.
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Diarreia Infantil , Síndromes de Malabsorção , Mucolipidoses , Miosina Tipo V , Animais , Células CACO-2 , Diarreia Infantil/metabolismo , Diarreia Infantil/patologia , Fácies , Retardo do Crescimento Fetal , Doenças do Cabelo , Humanos , Lactente , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Síndromes de Malabsorção/metabolismo , Microvilosidades/genética , Microvilosidades/patologia , Mucolipidoses/genética , Mucolipidoses/metabolismo , Mucolipidoses/patologia , Miosina Tipo V/genética , Miosina Tipo V/metabolismo , Fenótipo , Peixe-Zebra/genética , Peixe-Zebra/metabolismoRESUMO
Many studies from current literature show that cardiovascular diseases in patients with venous thromboembolism (VTE) are more frequent than in the general population without VTE. However, data summarizing the impact of cardiovascular diseases on mortality of patients with VTE are lacking. In this systematic review and meta-analysis, we aimed to determine the frequency and incidence rate of cardiovascular death in patients with VTE. MEDLINE and EMBASE were searched from January 1, 2000 to February 28, 2021. Eligible studies were observational prospective cohort studies including patients with VTE and reporting all causes of death. Cardiovascular death was defined as deaths that result from new or recurrent pulmonary embolism, death due to acute myocardial infarction, sudden cardiac death or heart failure, death due to stroke, death due to cardiovascular procedures or hemorrhage, death due to ruptured aortic aneurysm or aortic dissection and death due to other cardiovascular causes. Random-effect models meta-analysis served to determine all pooled effect size of interest with their 95% confidence interval (CI). Thirteen observational studies enrolling 22,251 patients were identified and included. The mean/median age varied between 49 and 75 years. The proportion of men ranged from 38.3 to 53.2%. The overall pooled frequency of cardiovascular death in patients with VTE was 3.9% (95% CI: 2.5-5.6%), while the overall pooled frequency of all-cause mortality was 12.0% (95% CI: 9.1-15.4%). The pooled proportion of cardiovascular death among all causes of deaths in patients with VTE was 35.2% (95% CI: 22.2-49.3%). The pooled incidence rate of cardiovascular death was 1.92 per 100 patient-years (95% CI: 0-4.1). The frequency of cardiovascular death in patients with VTE was significantly higher than in patients without VTE (risk ratio: 3.85, 95% CI: 2.75-5.39). Based on this updated meta-analysis from 13 prospective cohort studies, cardiovascular death in patients with VTE is more frequent than in the general population without VTE.
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Embolia Pulmonar , Tromboembolia Venosa , Idoso , Hemorragia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Embolia Pulmonar/etiologia , Fatores de Risco , Tromboembolia Venosa/etiologiaRESUMO
BACKGROUND: Although autism spectrum disorder (ASD) is known to include problems relating to nutrition, information about nutritional behavior, caregiver feeding styles, and anthropometric measurements is still limited. AIMS: We aimed to assess the nutritional behavior, anthropometric measurements, and caregiver feeding styles of children with ASD. METHOD: One hundred and four children with ASD and 100 controls were enrolled in the study. Children's weight and height were measured and recorded by the researchers. The Children's Eating Behavior Questionnaire, Parental Feeding Style Questionnaire, Development Assessment Form, and Sociodemographic Data Form were conducted by their caregivers. RESULTS: Children with ASD were difficult to feed as babies, experienced more problems in the transition to supplementary food, were more selective about food, and were fed diets with a more limited variety than the control group. The BMI z-scores for children with ASD were higher than those for children without ASD, while their height z-scores were lower. Children with ASD displayed more responsiveness to food, emotional overeating, enjoyment of food, desire for drinks, emotional undereating, and food selectivity behaviors, while the parents of these children were found to use more emotional feeding, instrumental feeding, and tolerance-controlled feeding styles than the parents of the controls. CONCLUSIONS: Children with ASD are more selective about foods and have greater difficulty in switching to supplementary food. The BMI-z score for children with ASD is higher and the height-z score is lower. Children with ASD have different eating and feeding styles compared to children in the control group.
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Transtorno do Espectro Autista , Estudos de Casos e Controles , Criança , Comportamento Alimentar , Humanos , Pais , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. CASE: Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation. CONCLUSIONS: We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.
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Manchas Café com Leite , Síndromes Neoplásicas Hereditárias , Criança , Humanos , Neoplasias Encefálicas , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/genética , Neoplasias Colorretais , Proteínas de Ligação a DNA , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , MutaçãoRESUMO
Abstract Introduction: This study aimed to review the surgical excision results and pathological diagnostic features of rarely observed intracardiac masses in the light of the literature. Diagnosis and treatment approaches and complications were evaluated. Methods: Forty patients (26 females, mean age 52.1±18.1 years, and 14 males, mean age 48.1±20.5 years), who had undergone surgery for intracardiac mass between January 2008 and December 2018, were included in this study. The patients' data were analyzed retrospectively from the medical records of both centers. Results: When the pathological diagnoses were examined, 85.8% of the masses (n=35) were observed to be benign (benign tumor + hydatid cyst) and 14.2% (n=5) were malignant tumors. The masses were most commonly located in the left atrium (75%, n=30), and this was followed by the right ventricle (12.5%, n=5), right atrium (7.5%, n=3), and left ventricle (5%, n=2). Of the patients, 7.5% (n=3) died during the early postoperative period, while the remaining 92.5% (n=37) were discharged with healing. In the histopathological diagnosis of the patients, in whom in-hospital major adverse cardiovascular events were observed, there was malignancy in two cases. Conclusion: Intracardiac masses, which have pathological features, are severe life-threatening problems. In-hospital mortality is frequent, especially in malignant tumors.
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Humanos , Masculino , Feminino , Adulto , Idoso , Equinococose , Neoplasias Cardíacas/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Estudos Retrospectivos , Átrios do Coração/cirurgia , Ventrículos do Coração/cirurgia , Ventrículos do Coração/diagnóstico por imagem , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Outbreaks of infectious diseases have negative effects on mental health. Currently, there is very little information about the psychological effects of the COVID-19 pandemic on adolescents and associated factors affecting their mental health. The aim of the present study is to determine the severity of anxiety, depression and post-traumatic stress disorder (PTSD) symptoms in adolescents during the COVID-19 outbreak, and to investigate the associated factors with these symptoms. METHODS: The present study was conducted with a total of 447 adolescents. Psychiatric symptoms were evaluated by the use of DSM-5 Level 2 Anxiety Scale, DSM-5 Level 2 Depression Scale and National Stressful Events Survey PTSD Short Scale. The association between age, gender, residential area, presence of COVID-19 in the participant, presence of COVID-19 in the family or environment and psychiatric symptoms were evaluated with linear regression analysis. RESULTS: The mean age of participants was 15.06, and 38.3% of the participants were men and 61.7% were women. The rate of participants with moderate or high levels of anxiety, depression and PTSD symptoms was 28%, 37.6% and 28.5%, respectively. High age and living in an urban area were associated with increased anxiety, depression and PTSD symptoms. In addition, female gender was associated with increased depression symptoms, and the presence of COVID-19 in the family or environment was associated with increased anxiety symptoms. CONCLUSION: The present study shows that adolescents have serious levels of anxiety, depression and PTSD symptoms during the COVID-19 pandemic. These results emphasise the need for mental health interventions that are appropriate for the characteristics of this age group.
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COVID-19 , Transtornos de Estresse Pós-Traumáticos , Adolescente , Ansiedade/epidemiologia , Ansiedade/etiologia , Estudos Transversais , Depressão/epidemiologia , Depressão/etiologia , Surtos de Doenças , Feminino , Humanos , Masculino , Pandemias , SARS-CoV-2 , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/etiologia , Estresse PsicológicoRESUMO
BACKGROUND: Pneumatosis cystoides intestinalis (PCI) is a disorder in which widespread air sacs are present in mucosa, submucosa, subserosa, and intraabdominal area of the intestinal wall. It has a heterogeneous clinical presentation as a rare complication of intestinal graft-versus-host disease (GVHD). Computed tomography is the preferred imaging method for the diagnosis. Since the air sacs could be ruptured spontaneously, the presence of free air in the peritoneal cavity does not confirm intestinal perforation. The conservative treatment approach is sufficient in cases that do not require urgent surgical intervention, such as perforation or obstruction. CASE: Here, we present a 2.5-year-old patient diagnosed with primary hemophagocytic lymphohistiocytosis (pHLH), who underwent allogeneic hematopoietic stem cell transplantation from a matched unrelated donor (MUD) and developed PCI secondary to intestinal GVHD 14th months after HSCT. CONCLUSIONS: Pneumatosis cystoides intestinalis, which is a rare complication, should be kept in mind, especially in patients with intestinal GVHD and receiving intensive immunosuppressive, octreotide, and steroid treatment after HSCT.
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Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Linfo-Histiocitose Hemofagocítica/terapia , Pneumatose Cistoide Intestinal/etiologia , Pré-Escolar , Colonoscopia , Evolução Fatal , Doença Enxerto-Hospedeiro/complicações , Humanos , Masculino , Pneumatose Cistoide Intestinal/diagnóstico , Tomografia Computadorizada por Raios XAssuntos
Pancreatite , Doença Aguda , Criança , Humanos , Pancreatite/diagnóstico , Valor Preditivo dos Testes , PrognósticoRESUMO
Autoimmune pancreatitis (AIP) type 1 is an IgG4-related disease (IgG4-RD), characterized by inflammatory pseudotumors and histologically by dense lymphoplasmacytic infiltrates rich in IgG4 positive plasma cells, storiform fibrosis, and obliterative phlebitis. Although quite rare, IgG4-RD was found to be associated with medium or small vessel vasculitides. A new overlap syndrome between IgG4-RD and ANCA-associated vasculitis (AAV) has recently been described in the adult population. Here we present a 16-year-old adolescent girl admitted with abdominal pain, episcleritis, palpable purpura, salivary gland enlargement, and bloody diarrhea. Laboratory investigations revealed findings of glomerulonephritis. Abdominal imaging surprisingly revealed a focal mass in the pancreatic tail, while the c-ANCA level was found to be quite high as well as serum IgG4 level. Biopsy of the pancreatic mass showed lymphoplasmacytic IgG4 positive cells infiltrating the pancreas with storiform fibrosis compatible with IgG4-related AIP. The renal biopsy that was done simultaneously showed necrotizing granulomatous vasculitis indicating AAV. Renal biopsy showed IgG4 positive plasma cells very rarely by immunohistochemical examination, which does not indicate any significance for IgG4-RD. Our diagnosis was IgG4-related AIP and AAV overlap syndrome, which has not been reported in the pediatric populations yet. IgG4-RD should be investigated in patients with ANCA-associated vasculitis who shows atypical organ involvement. We searched the Pubmed/Medline and Google Scholar databases to identify clinical findings, treatment, and outcome of the patients with IgG4-related AIP and AAV.
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Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , Doenças Autoimunes , Doença Relacionada a Imunoglobulina G4 , Adolescente , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/diagnóstico , Anticorpos Anticitoplasma de Neutrófilos , Doenças Autoimunes/diagnóstico , Feminino , Humanos , Imunoglobulina G , Doença Relacionada a Imunoglobulina G4/complicações , Doença Relacionada a Imunoglobulina G4/diagnósticoRESUMO
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.
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BACKGROUND: Autoimmune atrophic gastritis (AIG) is very rare in children. Despite a better understanding of histopathologic changes and serological markers in this disease, underlying etiopathogenic mechanisms and the effect of Helicobacter pylori (H pylori) infection are not well known. We aimed to investigate the relation between AIG and H pylori infection in children. MATERIALS AND METHODS: We evaluated the presence of AIG and H pylori infection in fifty-three patients with positive antiparietal cell antibody (APCA). Demographic data, clinical symptoms, laboratory and endoscopic findings, histopathology, and presence of H pylori were recorded. RESULTS: The children were aged between 5 and 18 years, and 28 (52.8%) of them were male. Mean age was 14.7 ± 2.6 years (median: 15.3; min-max: 5.2-18), and 10 (18.8%) of them had AIG confirmed by histopathology. In the AIG group, the duration of vitamin B12 deficiency was longer (P = .022), hemoglobin levels were lower (P = .018), and APCA (P = .039) and gastrin (P = .002) levels were higher than those in the non-AIG group. Endoscopic findings were similar between the two groups. Intestinal metaplasia was higher (P = .018) in the AIG group. None of the patients in the AIG group had H pylori infection (P = .004). One patient in the AIG group had enterochromaffin-like cell hyperplasia. CONCLUSIONS: Our results show that, in children, H pylori infection may not play a role in AIG. AIG could be associated with vitamin B12 deficiency, iron deficiency, and APCA positivity in children. APCA and gastrin levels should be investigated for the early diagnosis of AIG and intestinal metaplasia.
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Doenças Autoimunes/etiologia , Gastrite Atrófica/etiologia , Infecções por Helicobacter/complicações , Adolescente , Anemia Ferropriva/complicações , Criança , Pré-Escolar , Feminino , Gastrinas/metabolismo , Helicobacter pylori/isolamento & purificação , Humanos , Masculino , Metaplasia/complicações , Células Parietais Gástricas/patologia , Estudos Retrospectivos , Estômago/patologia , Deficiência de Vitamina B 12/complicaçõesRESUMO
BACKGROUND: Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). OBJECTIVE: We investigated four children, each born from consanguineous parents, presenting with steatorrhea, malnutrition, accumulation of lipids in enterocytes, and severe hypocholesterolemia with an apparent recessive transmission. METHODS: We sequenced a panel of genes whose variants may be associated with HBL. RESULTS: Case 1, a 9-month-old male, was found to be homozygous for a SAR1B variant (c.49 C>T), predicted to encode a truncated Sar1b protein devoid of function (p.Gln17*). Case 2, a 4-year-old male, was found to be homozygous for a SAR1B missense variant [c.409 G>C, p.(Asp137His)], which affects a highly conserved residue close to the Sar1b guanosine recognition site. Case 3, a 6-year-old male, was found to be homozygous for an â¼6 kb deletion of the SAR1B gene, which eliminates exon 2; this deletion causes the loss of the ATG translation initiation codon in the SAR1B mRNA. The same homozygous mutation was found in an 11-month-old child (case 4) who was related to case 3. CONCLUSIONS: We report 4 children with intestinal lipid malabsorption were found to have chylomicron retention disease due to 3 novel variants in the SAR1B gene.
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Hipobetalipoproteinemias/diagnóstico , Síndromes de Malabsorção/diagnóstico , Proteínas Monoméricas de Ligação ao GTP/genética , Criança , Pré-Escolar , Análise Mutacional de DNA , Endoscopia do Sistema Digestório , Deleção de Genes , Homozigoto , Humanos , Hipobetalipoproteinemias/genética , Lactente , Mucosa Intestinal/patologia , Lipídeos/sangue , Síndromes de Malabsorção/genética , Masculino , Mutação de Sentido Incorreto , Linhagem , Mutação PuntualRESUMO
OBJECTIVES: The purpose of the present study was to examine ultrasonographic appearances of Masseter Muscle (MM) in dentate and edentulous patients without Temporomandibular Disorder (TMD). MATERIALS AND METHODS: The thickness of the MM in 25 dentate (mean age: 30,68 ± 10,49) and 24 edentulous (mean age: 61,46 ± 9,71) patients, who visited routine dental examination, was measured at rest and at maximum contraction bilaterally. Examinations were performed using an Aloka Prosound α6 (Hitachi Aloka Medical Systems, Tokyo, Japan) equipped with an 8 MHz-wide bandwidth linear active matrix transducer (ranging from 1 to 15 MHz). The visibility and width of the internal echogenic bands of the MM were also assessed and the muscle appearance was classified as I of III types. Type I, characterized by the clear visibility of the fine bands; Type II, thickening echogenicity of the bands; Type III, disappearance or reduction in a number of the bands. RESULTS: MM thickness at rest and contraction in the dentate group were significantly higher than the edentulous group (p <0.05). Type I was the most common echogenic type in both dentate (right:16 (64%), left; 15 (60%)) and edentulous patients (right; 22 (91.7%), left; 18 (75%)). In a dentate group, type II was significantly higher than the edentulous group in both the right and left sides (p <0.05; p <0.01, respectively). Age and gender seemed to have no significant effect on the echogenic type (p Ë0.05). CONCLUSION: There were significant differences in the thickness at rest and contraction between the dentate and edentulous groups. It was clarified that ultrasonographic features of the MM in dentate and edentulous patients were different.
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Electrospray is a promising technique to scale-up production of microparticles and nanoparticles. In this study, electrospraying was used in order to produce candidate biopatches (CPH) by using chitosan, poly(ethylene glycol) (PEG) and hyaluronic acid (HA). Four different ratios of polymer blend compositions (CPH1, CPH2, CPH3 and CPH4) were tested by dissolving in 2% acetic acid solution (Ac.A.). The HA amount in each blend was kept the same to designate the optimum surface with different chitosan/PEG ratios for electrospray process. Fourier-transform infrared (FTIR) microscopy, scanning electron microscopy (SEM), and atomic force microscopy (AFM) studies showed that obtained patches had highly adhesive surfaces with the aid of heterogeneously distributed micro- and nano-particles. Additionally, video images of FTIR microscopy and AFM images proved that all surfaces have similar heterogeneity except CPH2. The most homogenous surface was obtained by CPH3. Patches were directly subjected to antibacterial tests against ten different types of gram positive and gram negative bacteria using disc diffusion assay (Kirby-Bauer method). Extraordinarily there was no antibacterial property of patches coated with microparticles. Finally, biocompatibility studies were performed by using mouse fibroblast L929 cell lines (ATTC number CCL-1) to test cell adhesion and proliferation properties of the patches. Results of 72 h viability tests proved the electrospray of ternary blends had displayed good biocompatibility; in particular, CPH3 had the highest cell viability.
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Materiais Biocompatíveis/química , Quitosana/química , Eletroquímica/métodos , Ácido Hialurônico/química , Polietilenoglicóis/química , Animais , Anti-Infecciosos/farmacologia , Fibroblastos/metabolismo , Camundongos , Testes de Sensibilidade Microbiana , Microscopia de Força Atômica , Microscopia Eletrônica de Varredura , Nanopartículas/química , Polietileno/química , Espectroscopia de Infravermelho com Transformada de FourierRESUMO
BACKGROUND: Intensive Care Units (ICUs) are places where critically ill patients are managed. AIM: We aimed to investigate skin disorders that developed in critically ill surgical patients during their stay in the ICU. METHODS: The prevalence of dermatological disorders and factors affecting their clinical features was prospectively analyzed in surgical ICU patients. We recorded age, sex, type of ICU, comorbidities, skin disorders, time to consultation, duration of ICU stay, and mortality rate. RESULTS: Our study included 605 patients (mean age of 60.1 ± 20.2 years; 56.4% males). Seventy-three (12.1%) patients were consulted with the Dermatology Department, among which 28.8% had infectious dermatological lesions, 26% dermatoses, and 45.2% drug reactions. The most common infectious dermatological disorder was wound infection (55.6%), the most common drug reaction was maculopapular drug eruption (75.8%), and the most common dermatosis was frictional blisters (47.4%). Multiple comorbidities, hypertension, diabetes mellitus, coronary artery disease, Parkinson disease, and stroke increased dermatological disorders (P < 0.05). The consulted patients had a median ICU stay of 7 days (range 2-53 days); consultation was significantly more common when it exceeded 10 days (74% vs. 26%, P < 0.05). The consulted patients died more commonly (P < 0.05). Infectious dermatological disorders and dermatoses were more common in patients older and younger than 50 years, respectively (P < 0.05). Dermatoses were more common among women (P < 0.05). The median time to consultation was 6 (2-30) days; it was longest for dermatological infections and shortest for dermatoses (P < 0.05). Infectious dermatological disorders were significantly more common among the deceased patients (P < 0.05). CONCLUSION: Multiple factors including multiple comorbidities, duration of ICU stay, time to consultation, and mortality increase dermatological disorders among surgical ICU patients.