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Introduction: Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) protein is a mitochondrial enzyme. Multisystemic involvement occurs in HSD10 deficiency as in other mitochondrial diseases. HSD10 deficiency (disease) is rare. Less than 40 index cases have been reported so far. A female patient is even rarer because of X-linked transmission. Five index female cases have been reported. Case Presentation: We report a three-year-old female patient who was investigated due to microcephaly and global developmental delay. She had significant dysmorphic findings. The tiglylglycine peak was detected in urinary organic acid analysis. Other metabolic investigations and laboratory tests were unremarkable. Mild cerebral atrophy, mild ventricular dilation, thin corpus callosum, and an increase in T2 signal in the globus pallidus were revealed at brain magnetic resonance imaging. Heterozygous novel mutation in the HSD17B10 gene was found by whole-exome sequencing (WES) analysis. We started isoleucine-restricted diet and a "cocktail" of the mitochondrial vitamin. Discussion/Conclusion: We will see HSD10 disease patients more frequently with the increasing use of WES and genetic panels. Thus, different findings and phenotypes of the HSD10 disease will be revealed.
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OBJECTIVES: Phenylalanine hydroxylase (PAH) is predominantly a hepatic enzyme that catalyzes phenylalanine (Phe) into tyrosine, which is the rate-limiting step in Phe catabolism. Biallelic variants in the PAH gene cause PAH enzyme deficiency. Phenylketonuria (PKU) is an autosomal recessive disorder that causes neurologic, behavioral, and dermatological findings. PKU could be divided clinically into three types based on the blood Phe levels: classic phenylketonuria (cPKU), mild-moderate phenylketonuria (mPKU), and mild hyperphenylalaninemia (MHP). This study aimed to determine the phenotypic and genotypic characteristics of Turkish PKU patients in the eastern region of Türkiye. METHODS: Demographic characteristics, serum Phe levels, treatments, and PAH variants of 163 patients with PKU and hyperphenylalaninemia (HPA) were retrospectively evaluated. Blood Phe levels of the patients were analyzed with the high-performance liquid chromatography method. For PAH gene analysis, next-generation sequencing was performed. RESULTS: Of the 163 patients included in the study, 38 (23.3â¯%) had cPKU, 16 (9.8â¯%) had mPKU, and 109 (66.9â¯%) had MHP. Homozygous variants in the PAH gene were detected in 66 (40.5â¯%) of the patients, while compound heterozygous variants were detected in 97 (59.5â¯%) patients. Two novel and 35 recurrent variants in the PAH gene were detected. Of the two novel variants, one was missense (p.Phe351Leu) and the other was frameshift (p.Met276Cysfs*65). The most frequently detected variants were p.Thr380Met (18â¯%), p.Arg261Gln (16.8â¯%), and p.Ala300Ser (12.8â¯%). All patients with the homozygous c.1066-11G>A variant exhibited cPKU phenotype. The c.898G>T (p.Ala300Ser), c.1139C>T (p.Thr380Met), and c.1208C>T (p.Ala403Val) variants were statistically related to mild phenotype. On the other hand, c.592_613del (p.Tyr198Serfs*136), c.1028A>G (p.Tyr343Cys), and c.782G>A (p.Arg261Gln) variants were more frequently detected in the cPKU group. CONCLUSIONS: Our study, conducted with patients from the eastern region of Türkiye, demonstrates the genetic heterogeneity in the Turkish population. Simultaneously, our research contributes to genotype-phenotype correlation and expands the genotypic spectrum by identifying novel variants.
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Fenilalanina Hidroxilase , Fenilcetonúrias , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Biomarcadores/sangue , Biomarcadores/análise , Seguimentos , Genótipo , Mutação , Fenótipo , Fenilalanina/sangue , Fenilalanina/genética , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Fenilcetonúrias/sangue , Prognóstico , Estudos Retrospectivos , Turquia/epidemiologiaRESUMO
Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.6 years). Before starting empagliflozin (at a median age of 8.1 months with a median dose of 0.3 mg/kg/day) 12 patients had clinical signs and symptoms of neutrophil dysfunction. Six of these previously symptomatic patients had no further neutropenia/neutrophil dysfunction-associated findings on empagliflozin. Eight patients had no signs and symptoms of neutropenia/neutrophil dysfunction before start and during empagliflozin treatment. One previously asymptomatic individual with a horseshoe kidney developed a central line infection with pyelonephritis and urosepsis during empagliflozin treatment. Of the 10 patients who were treated with G-CSF before starting empagliflozin, this was stopped in four and decreased in another four. Eleven individuals were never treated with G-CSF. While in 17 patients glucose homeostasis remained stable on empagliflozin, four showed glucose homeostasis instability in the introductory phase. In 17 patients, no other side effects were reported, while genital (n = 2) or oral (n = 1) candidiasis and skin infection (n = 1) were reported in the remaining four. Empagliflozin had a good effect on neutropenia/neutrophil dysfunction-related signs and symptoms and a favourable safety profile in infants with GSD 1b and therefore qualifies for further exploration as first line treatment.
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Compostos Benzidrílicos , Glucosídeos , Doença de Depósito de Glicogênio Tipo I , Neutropenia , Neutrófilos , Humanos , Doença de Depósito de Glicogênio Tipo I/tratamento farmacológico , Doença de Depósito de Glicogênio Tipo I/complicações , Neutropenia/tratamento farmacológico , Masculino , Feminino , Lactente , Compostos Benzidrílicos/uso terapêutico , Compostos Benzidrílicos/administração & dosagem , Estudos Retrospectivos , Neutrófilos/efeitos dos fármacos , Glucosídeos/uso terapêutico , Glucosídeos/farmacologia , Glucosídeos/administração & dosagem , Inibidores do Transportador 2 de Sódio-Glicose/uso terapêutico , Resultado do Tratamento , Fator Estimulador de Colônias de Granulócitos/uso terapêuticoRESUMO
BACKGROUND: Phenylalanine (Phe)-restricted diet is associated with lower quality of life for patients with phenylketonuria (PKU), and a concern for caregivers of recently-diagnosed infants. Sapropterin is an oral drug used as an alternative or adjunct to dietary treatment. We have observed that some of the young infants initially managed successfully with sapropterin monotherapy have required dietary treatment in long-term follow-up. We aimed to determine the baseline factors associated with future initiation of dietary treatment in these patients. METHODS: Data were obtained retrospectively from the medical records of 80 PKU patients started on sapropterin monotherapy before 3 months of age between 2011 and 2021. RESULTS: The patients were followed for a median of 3.9 years (Q1-Q3: 2.5-5.75 years). Sapropterin was tapered down and discontinued in 5 patients (6.3%) as their Phe levels remained below 360 µmol/L without treatment. Sapropterin monotherapy was sufficient in 62 patients (77.5%), while 13 (16.2%) required dietary treatment. Phe and tyrosine (Tyr) levels, and Phe:Tyr ratios differed significantly among the patients maintained on sapropterin monotherapy and those started on dietary treatment, but the Phe:Tyr ratio at diagnosis was the most important independent baseline variable (OR: 1.61, 95% CI: 1.15-2.27, p = 0.006), with Phe:Tyr ratio at diagnosis >5.25 associated with dietary treatment (sensitivity: 90.0%, specificity: 81.8%). Genotypic phenotype value (GPV), unavailable at baseline, was also associated with dietary treatment (median GPV 9.2 vs. 3.8, p = 0.006), but some genotypes were not specific to the final treatment modality. DISCUSSION: We propose that the Phe:Tyr ratio at diagnosis is an important indicator to predict dietary requirement in young infants initially managed with sapropterin monotherapy.
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Fenilalanina Hidroxilase , Fenilcetonúrias , Humanos , Lactente , Estudos Retrospectivos , Qualidade de Vida , Fenilalanina , Fenilcetonúrias/tratamento farmacológico , Fenilcetonúrias/genética , Dieta , Biopterinas , Fenilalanina Hidroxilase/genéticaRESUMO
OBJECTIVE: The purpose of our study was to devise a new brain Magnetic Resonance Imaging (MRI) scoring system based on the Loes and modified Loes scores in phenylketonuria (PKU) patients. MATERIALS AND METHODS: The brain MRI scans of patients with late diagnosed PKU were evalu- ated retrospectively. Patients' age at diagnosis, age at which diet started, age at MRI, and, blood phenylalanine (Phe) levels at the time point closest to the MRI were recorded. RESULTS: Eleven patients aged from 3 to 28 years were included in the study. The median MRI involvement score was 17 (interquartile range = 3). The most involved white matter areas were the parietooccipital areas. There was a significant (P = .046) correlation between the blood Phe level at the timepoint closest to the imaging and the MRI involvement score. CONCLUSION: Our study provides insights into the MRI findings and scoring system in PKU patients. We have developed a scoring system based on the widely used Loes and modified Loes scoring systems that can be implemented in clinical practice. Also, our study contributes to the long-forgotten and largely abandoned area-imaging findings in late diagnosed and untreated PKU patients and set the stage for the future research in this field.
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BACKGROUND: Old age, obesity, and certain chronic conditions are among the risk factors for severe COVID-19. More information is needed on whether inherited metabolic disorders (IMD) confer risk of more severe COVID-19. We aimed to establish COVID-19 severity and associated risk factors in patients with IMD currently followed at a single metabolic center. METHODS: Among all IMD patients followed at a single metabolic referral center who had at least one clinic visit since 2018, those with accessible medical records were reviewed for SARS-CoV-2 tests. COVID-19 severity was classified according to the WHO recommendations, and IMD as per the international classification of IMD. RESULTS: Among the 1841 patients with IMD, 248 (13.5%) had tested positive for COVID-19, 223 of whom gave consent for inclusion in the study (131 children and 92 adults). Phenylalanine hydroxylase (48.4%) and biotinidase (12.1%) deficiencies were the most common diagnoses, followed by mucopolysaccharidoses (7.2%). 38.1% had comorbidities, such as neurologic disabilities (22%) or obesity (9.4%). The majority of COVID-19 episodes were asymptomatic (16.1%) or mild (77.6%), but 6 patients (2.7%) each had moderate and severe COVID-19, and two (0.9%) had critical COVID-19, both of whom died. 3 patients had an acute metabolic decompensation during the infection. Two children developed multisystem inflammatory syndrome (MIS-C). Long COVID symptoms were present in 25.2%. Presence of comorbidities was significantly associated with more severe COVID-19 in adults with IMD (p < 0.01), but not in children (p = 0.45). Compared to other categories of IMD, complex molecule degradation disorders were significantly associated with more severe COVID-19 in children (p < 0.01); such a significant IMD category distinction was not found in adults. DISCUSSION: This is the largest study on COVID-19 in IMD patients relying on real-word data and objective definitions, and not on merely expert opinions or physician surveys. COVID-19 severity and long COVID incidence in IMD are probably similar to the general population, and the risk of acute metabolic decompensation is not likely to be greater than that in other acute infections. Disease category (complex molecule degradation) in children, and comorbidities in adults may be associated with COVID-19 severity in IMD. Additionally, the first documented accounts of COVID-19 in 27 different IMD are recorded. The high occurrence of MIS-C may be coincidental, but warrants further study.
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COVID-19 , Doenças Metabólicas , Adulto , Criança , Humanos , COVID-19/epidemiologia , SARS-CoV-2 , Síndrome de COVID-19 Pós-Aguda , Fatores de Risco , Gravidade do Paciente , Doenças Metabólicas/epidemiologia , Obesidade/complicações , Obesidade/epidemiologiaRESUMO
The objective of this study was to examine the efficacy of a 5-week, tele-CO-OP intervention in children with organic acidemia. Thirty-four children were randomly divided into intervention and control groups. While 17 received the home program, 17 received the CO-OP Approach with telehealth twice a week along with the home program. Children were assessed through the Canadian Occupational Performance Measure, Pediatric Evaluation of Disability Inventory, Child and Adolescent Scale of Participation, Kid-KINDL Questionnaire, and Assistance to Participate Scale. Between-group analyses show significant benefits (p < .05) for the CO-OP group compared with the control group on the Performance and Satisfaction scales of the Canadian Occupational Performance Measure, and on the total scores of the Pediatric Evaluation of Disability Inventory, Child and Adolescent Scale of Participation, KINDL, and the Assistance to Participate Scale. The findings are preliminary results of benefits as this is the first trial, and the CO-OP approach applied through telerehabilitation had positive effects on children with organic acidemia.
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Projetos Piloto , Adolescente , Humanos , Criança , Canadá , Inquéritos e QuestionáriosRESUMO
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical features. Aims: To evaluate the demographic and clinical data of patients with GM1 gangliosidosis in a single center. Study Design: A retrospective clinical study. Methods: This study included patients followed at Hacettepe University Ihsan Dogramaci Children's Hospital Pediatric Metabolism Unit with the diagnosis of GM1 gangliosidosis between 1988 and 2021. Hospital records of the patients were reviewed for demographic, clinical, and laboratory findings. Results: Fourteen patients were included in the study and 10 (71.4%) were male. The age at onset of clinical symptoms was between 0 and 5 months, and the median time to diagnosis after the first symptom was 4.3 (0-13) months. Motor delay (54%) was the most common initial symptom. The median follow-up period was 14.8 (0.4-92.2) months. Twelve patients (85.7%) died, and all deaths occurred before the age of 24 months. The median survival was 21.3 (95% confidence interval, 15.5-24.9) months. Higher leukocyte beta-galactosidase activity correlated with later age at onset (ρ = 0.575), later age at diagnosis (ρ = 0.618), and longer diagnostic delay (ρ = 0.702) (ρ < 0.05). Conclusion: Median survival in patients with GM1 gangliosidosis is less than 24 months. Beta-galactosidase enzyme activity may be associated with clinical onset and time of diagnosis in these patients.
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Gangliosidose GM1 , Diagnóstico Tardio , Feminino , Gangliosidose GM1/diagnóstico , Gangliosidose GM1/genética , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , beta-Galactosidase/genética , beta-Galactosidase/metabolismoRESUMO
PURPOSE: To evaluate the effects of Fabry disease (FD) on the retinal microvasculature and choroidal vascular and structural characteristics. METHODS: This study included 10 patients with FD and 10 age-matched healthy controls. Binarized enhanced depth imaging optical coherence tomography (OCT) images were used to measure the total choroidal area, luminal area, and stromal area with ImageJ software. The choroidal vascularity index (CVI) was assessed. The vessel densities (VD) of the retinal capillary plexuses and foveal avascular zone (FAZ) area were measured with OCT-angiography. RESULTS: The most common anterior segment finding was cornea verticillata (60.0%) and the most frequent posterior segment finding was vascular tortuosity (50.0%). Intraretinal hyperreflective foci on B-scan OCT was observed in 50.0% of the cases. In Fabry cases, a linear mixed model with random intercept revealed that 1% change in CVI was related to -0.009 mm2 (p = .015) change in FAZ area and -0.047 mm change, (p = .024) in FAZ perimeter. In the presence of retinal vascular tortuosity, 1% change in CVI was related to -0.013 mm2 (p = .002) change in FAZ area and -0.052 mm change (p = .004) in FAZ perimeter. In the presence of hyperreflective foci, 1% change in CVI was related to -0.014 mm2 (p = .004) change in FAZ area and -0.064 mm change (p = .003) in FAZ perimeter. CONCLUSION: The significant negative associations between FAZ measurements and CVI suggest a possible interaction between the choroidal and retinal microvasculature of patients with FD. These alterations were more pronounced in the presence of hyperreflective foci and retinal vascular tortuosity.
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Doença de Fabry , Macula Lutea , Corioide , Doença de Fabry/complicações , Angiofluoresceinografia/métodos , Humanos , Vasos Retinianos , Tomografia de Coerência Óptica/métodosRESUMO
BACKGROUND: Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse neuropsychiatric outcomes. In the COVID-19 pandemic, which has had a substantial effect on the whole world since the beginning of 2020, PKU patients represent a vulnerable population because they may be dependent on special nutritional products, have limited access to routine care and display increased levels of anxiety. METHODS: For this reason, an online questionnaire assessing the anxiety levels and various personal opinions and practices regarding the pandemic was sent to the PKU patients managed at our clinic, who were 12 years of age or older. Ninety-eight patients responded to the questionnaire. Median age of the participants was 19 years. RESULTS: Most patients were compliant with the hygiene and social distancing recommendations regarding the spread of COVID-19. Of the patients, 61.2% felt more anxious since the pandemic. The most common concern was the possibility of not being able to obtain special nutritional products (58.2%). Anxiety level was significantly higher in females. CONCLUSIONS: These data suggest that food security is an important issue of concern in PKU patients. In line with the changing world after the pandemic, different strategies should be considered in the management of patients with inborn errors of metabolism, including PKU.
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COVID-19 , Fenilcetonúrias , Adulto , Ansiedade/epidemiologia , Ansiedade/etiologia , Feminino , Humanos , Pandemias , Fenilcetonúrias/epidemiologia , SARS-CoV-2 , Adulto JovemRESUMO
A Correction to this paper has been published: https://doi.org/10.1007/s11011-021-00759-8.
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The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper airway surgery, pulmonary functions, and exercise capacity. A retrospective cross-sectional study was conducted on patients with MPS IVA (n:17) and MPS VI (n:11) aged under 19 years who underwent polysomnography. Descriptive and nonparametric analyses were performed for demographic, PSG, pulmonary function and exercise capacity variables. The frequency of sleep apnea in the study sample was 85.7% (24/28). Four patients (14.3%) had no sleep apnea, 15 (53.6%) had mild, and nine (32.1%) had moderate-to-severe sleep apnea. Two patients (7.1%) had central sleep apnea and 22 had obstructive sleep apnea (OSA) (78.6%). Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were negatively correlated to apnea-hypopnea index (AHI) (r = -0.594, p = .009; r = -0.636, p = .005, respectively). Despite ERT and previous upper airway surgery, the prevalence of OSA was high in patients with MPS IVA-MPS IV, emphasizing the importance of PSG screening for sleep disorders. Pulmonary function tests may be useful for predicting sleep apnea in patients with MPS IVA and MPS VI.
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Mucopolissacaridose IV/complicações , Mucopolissacaridose IV/epidemiologia , Síndromes da Apneia do Sono/epidemiologia , Síndromes da Apneia do Sono/etiologia , Adolescente , Fatores Etários , Biomarcadores , Gasometria , Criança , Pré-Escolar , Estudos Transversais , Suscetibilidade a Doenças , Terapia de Reposição de Enzimas , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mucopolissacaridose IV/diagnóstico , Mucopolissacaridose IV/tratamento farmacológico , Polissonografia , Prevalência , Testes de Função Respiratória , Estudos Retrospectivos , Índice de Gravidade de Doença , Síndromes da Apneia do Sono/diagnóstico , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/etiologiaRESUMO
In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalaninemia, revealing the genetic etiology in previously unresolved cases. In this study, we aimed to investigate DNAJC12 deficiency in non-tetrahydrobiopterin-deficient persistent hyperphenylalaninemia cases without biallelic PAH variants in a single pediatric metabolic center. It was determined retrospectively that 471 patients with non-tetrahydrobiopterin deficiency-hyperphenylalaninemia had undergone PAH gene sequencing and 451 patients had biallelic variants in PAH. DNAJC12 sequencing was performed in the remaining 20 patients, identifying a previously reported homozygous splice-site variant (c.158-2A > T) in one patient with axial hypotonia and developmental delay, and a novel, homozygous c.404del (p.Arg135Lysfs*21) frameshift variant in an asymptomatic patient. In segregation analysis, the asymptomatic patient's both parents were also found to be homozygous for this variant and hyperphenylalaninemic. The parents may have had academic difficulties but intellectual disability could not be confirmed due to lack of cooperation. The symptomatic patient significantly benefited from treatment with sapropterin dihydrochloride and neurotransmitter precursors. DNAJC12 deficiency might be responsible for approximately 10% or more of cases with unexplained hyperphenylalaninemia. The phenotypic spectrum is broad, ranging from early infantile hypotonia to incidental diagnosis in adulthood. Similar to tetrahydrobiopterin deficiencies, early diagnosis and treatment with sapropterin dihydrochloride and neurotransmitter precursors can be beneficial, supporting the analysis of DNACJ12 gene in patients with unexplained hyperphenylalaninemia.
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Erros Inatos do Metabolismo dos Aminoácidos/genética , Proteínas de Choque Térmico HSP40/deficiência , Fenilalanina/sangue , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Biopterinas/análogos & derivados , Biopterinas/uso terapêutico , Criança , Deficiências do Desenvolvimento/genética , Feminino , Variação Genética , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Masculino , Hipotonia Muscular/genética , Neurotransmissores/uso terapêutico , Fenilalanina Hidroxilase/genética , Isoformas de Proteínas/genéticaRESUMO
OBJECTIVES: Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. METHODS: During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms. RESULTS: The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1-16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not. CONCLUSIONS: Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.
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COVID-19/epidemiologia , Terapia de Reposição de Enzimas , Doenças por Armazenamento dos Lisossomos/tratamento farmacológico , SARS-CoV-2 , Adolescente , Adulto , Criança , Pré-Escolar , Efeitos Psicossociais da Doença , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto JovemRESUMO
Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by ciliary dysfunction. Patients may present with respiratory distress during neonatal period; chronic sinopulmonary disease, bronchiectasis, recurrent otitis media, sinusitis and infertility in later periods. About 50% of PCD patients have situs inversus totalis and 6-12% have situs ambiguous known as heterotaxy syndromes. Herein, we present a case of PCD and accompanying situs inversus who had acute abdominal pain and was diagnosed with torsion of one of the multiple spleens. Evaluation of acute abdominal pain in these patients has great importance since the internal organs are not at their typical locations.
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Síndrome de Kartagener , Otite Média , Sinusite , Situs Inversus , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Humanos , Recém-Nascido , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico , Situs Inversus/complicações , Situs Inversus/diagnósticoRESUMO
OBJECTIVES: Phenylketonuria (PKU) and mild hyperphenylalaninemia (HPA) are characterized by increased blood phenylalanine concentrations varying from mild to severe. Management of PKU was reported to be time consuming and burdensome for caregivers. This study intended to explore the experiences of families caring for a child with PKU/HPA in a country with a high PKU rate. The aim of this study was to compare parental well-being between parents of children with and without dietary restrictions and to explore the factors associated with parental psychological well-being. METHODS: Participants were interviewed about their experiences, concerns, and challenges related to the disease by using a semistructured questionnaire. After the interview, parents filled out the Beck Depression Inventory and State-Trait Anxiety Inventory-Trait. RESULTS: This study highlighted the adverse psychological, financial, and social effects of the diagnosis and management of the disease regarding the lives of the families of children with PKU/HPA. Although parental anxiety scores of children with and without dietary restrictions were similar, depressive symptom scores were higher in parents of children with dietary restrictions. However, in multiple regression analysis, lower household income and absence of perceived social support were found to be independent factors associated with higher depressive symptom scores. Having a daughter diagnosed with PKU/HPA and lower household income were found to be factors associated with higher anxiety scores. CONCLUSION: This study revealed that income level, perceived social support, and gender of the child were factors associated with psychological well-being of parents caring for children with PKU/HPA. Health care professionals should identify the challenges faced by families and should be aware of risk factors associated with lower parental well-being to achieve better family adjustment and better health outcomes.
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Ansiedade/psicologia , Depressão/psicologia , Pais/psicologia , Fenilcetonúrias/dietoterapia , Fenilcetonúrias/enfermagem , Apoio Social , Fatores Socioeconômicos , Adulto , Cuidadores/psicologia , Criança , Feminino , Humanos , Masculino , Fatores Sexuais , TurquiaRESUMO
Çiki K, Dogru D, Kuskonmaz B, Emiralioglu N, Yalçin E, Özçelik U, Uçkan-Çetinkaya D, Kiper N. Pulmonary complications following hematopoietic stem cell transplantation in children. Turk J Pediatr 2019; 61: 59-70. Pediatric data about early or long-term pulmonary complications of hematopoietic stem cell transplantation (HSCT) are limited. Here we aimed to evaluate children who were treated with HSCT in the last 10 years and developed pulmonary complications following HSCT and to determine their risk factors associated with pulmonary complications. In this retrospective study, we evaluated 195 patients for the development of pulmonary complications after HSCT within a 10 years of period. Pulmonary complications developed in 71 (36.4%) patients. Of the 71 patients who had pulmonary complications, 60 had one pulmonary complication, 11 had two pulmonary complications. Pulmonary complications were diagnosed as early in 42 (51.2%) and late in 40 (48.8%) episodes. Pulmonary complications were infectious in 28 (34.1%), noninfectious in 20 (24.4%) and both infectious and nonfectious in 34 (41.5%) episodes. Pulmonary complications developed significantly more frequently in patients with malignancy, congenital immune deficiency and with at least one pulmonary disease before HSCT. The number of patients who had myeloablative conditioning regimen was significantly higher in the group of patients without pulmonary complications than the group with pulmonary complications. However, in multivariate analysis, none of these variables were shown to be effective in predicting pulmonary complications after HSCT (p > 0.05). During follow up, 54 (65.8%) episodes recovered, 20 (24.3%) episodes resulted with death due to pulmonary complications, 6 (7.3%) episodes had chronic pulmonary disease (bronchiolitis obliterans (BO) and bronchiolitis obliterans organizing pneumonia (BOOP)); 2 patients (each patient with one episode) were lost to follow up. In conclusion; identifying children who are at risk for severe pulmonary complications and close longitudinal follow-up after HSCT by pediatric pulmonologists is mandatory to increase survival and life quality of these patients.