August 2024
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7 Reads
Journal of Paediatrics and Child Health
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August 2024
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7 Reads
Journal of Paediatrics and Child Health
December 2023
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1 Read
Journal of Pediatric Surgery Case Reports
July 2023
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41 Reads
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5 Citations
Pediatric Research
Background Several studies have discovered an association between infant feeding practices and puberty timing; however, most have involved female cohorts. We investigated the association between infant feeding practices and the timing of peak height velocity in boys and girls. Methods Data on infant feeding methods and anthropometric measurements were collected from a nationwide Japanese birth cohort study. The age at peak height velocity (APV, years) was estimated and compared. Subsequently, the effects of breastfeeding duration were analyzed. Results Of the 13,074 eligible participants, 650, 9455, and 2969 were formula-, mixed-, and exclusively breastfed, respectively. Among girls, the mean APV was significantly later in the mixed-fed (standardized regression coefficient (β): 0.094, 95% confidence interval (CI): 0.004–0.180) and exclusively breastfed (β: 0.150, 95% CI: 0.056–0.250) groups than in the formula-fed group. Among boys, the mean APV was not significantly different among the three groups; however, a sensitivity analysis that excluded preterm birth revealed more significantly delayed APV in the breastfed-only group compared to the formula-fed group. Furthermore, a multiple linear regression model revealed that a longer breastfeeding period was associated with later APV. Conclusions Infant breastfeeding practices can affect the timing of peak height velocity in both boys and girls. Impact Several studies have discovered an association between infant feeding practices and puberty timing; however, most have involved female cohorts. Age at peak height velocity, derived from longitudinal height measurements, is a useful marker of secondary sexual maturity milestones in boys and girls. A Japanese birth cohort study revealed that breastfed children had a later age at peak height velocity than their formula-fed counterparts; this was more prominent among girls than boys. Furthermore, a duration-effect relationship was observed, where longer breastfeeding duration was associated with a later age at peak height velocity.
April 2022
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11 Reads
Journal of Paediatrics and Child Health
November 2020
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25 Reads
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9 Citations
Background The relationship between growth hormone (GH)-replacement therapy and the thyroid axis in GH-deficient (GHD) children remains controversial. Furthermore, there have been few reports regarding non-GHD children. We aimed to determine the effect of GH therapy on thyroid function in GHD and non-GHD children and to assess whether thyrotropin-releasing hormone (TRH) stimulation test is helpful for the identification of central hypothyroidism before GH therapy. Methods We retrospectively analyzed data from patients that started GH therapy between 2005 and 2015. The free thyroxine (FT4) and thyroid-stimulating hormone (TSH) concentrations were measured before and during 24 months of GH therapy. The participants were 149 children appropriate for gestational age with GHD (IGHD: isolated GHD) (group 1), 29 small for gestational age (SGA) children with GHD (group 2), and 25 short SGA children (group 3). Results In groups 1 and 2, but not in group 3, serum FT4 concentration transiently decreased. Two IGHD participants exhibited central hypothyroidism during GH therapy, and required levothyroxine (LT4) replacement. They showed either delayed and/or prolonged responses to TRH stimulation tests before start of GH therapy. Conclusions GH therapy had little pharmacological effect on thyroid function, similar changes in serum FT4 concentrations were not observed in participants with SGA but not GHD cases who were administered GH at a pharmacological dose. However, two IGHD participants showed central hypothyroidism and needed LT4 replacement therapy during GH therapy. TRH stimulation test before GH therapy could identify such patients and provoke careful follow-up evaluation of serum FT4 and TSH concentrations.
June 2020
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32 Reads
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5 Citations
Clinical Rheumatology
February 2019
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68 Reads
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5 Citations
Stem Cell Research
Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, and is characterized by a wide spectrum of severity levels caused by varied mutations in IDUA. A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q). This disease-specific iPSC line will be useful for the research of MPS I.
August 2018
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53 Reads
Purpose: Gaucher disease (GD) is the most frequent lysosomal storage disease exhibiting progressive neurological impairment. Therapeutic efficacy of enzyme replacement therapy (ERT) has been established for GD, however, it is not applicable to neurological symptoms because the enzymes do not cross the blood‐brain barrier. Intrathecal baclofen therapy (IBT) is indicated for spastic neurological conditions. Here we assessed the clinical characteristics of myoclonic seizures and efficacy of IBT in a case with type 2 GD, the most severe subtype of GD. Methods: A female patient, born at 37 weeks of gestation, developed mental retardation, hepatosplenomegaly, dysphagia, deafness, and neurological manifestation including spasticity and opisthotonus,. She was diagnosed as having type 2 GD based on decreased β‐galactosidase activity in her lymphocytes and genetic analysis. ERT (intravenous velaglucerase alfa, a human recombinant glucocerebrosidase enzyme, 60 U/kg biweekly) was effective to her visceral symptom, however, her neurological condition did not improve. She started showing myoclonic seizures with apnea at 3 months of age. At age 1 year and 5 months, simultaneous chaperone therapy (oral ambroxol hydrochloride, 25 mg/kg/day) was started but her muscle spasticity and scoliosis progressed. She showed daily convulsive seizures, several times per hour. At 2 years of age, intrathecal baclofen trial (5 μg) was effective to her spasticity, and at age 2 years and 5 months an intrathecal baclofen pump was implanted and IBT was commenced. We evaluated efficacy of IBT to her seizures. Results: Her seizures comprised of abrupt myoclonus starting from upper extremities and evolving to generalized convulsive seizures. After the follow‐up period of 1 year, she was treated with 240 μg/day of baclofen, and her seizures with apnea attacks completely suppressed. Conclusion: In patients with type 2 GD deficiency, IBT can be effective not only to spasticity but also to convulsive seizures.
February 2018
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8 Reads
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1 Citation
Molecular Genetics and Metabolism
January 2018
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196 Reads
Neuropsychiatry
Methionine adenosyltransferase I/III (MAT I/III) deficiency is a metabolic disorder exhibiting persistent hypermethioninemia and neurological problems such as mental retardation and movement disorders by brain demyelination. Current diagnosis of MAT I/III deficiency completely depends upon newborn mass screening. Recently, correlation between the type of mutation of the MAT1A gene and clinical presentation has been investigated. The most common mutation, heterozygous for the autosomal dominant Arg264His mutation, is a relatively benign phenotype which requires no treatment. In contrast, care must be taken on the Arg292Cis mutation, especially if compounded with mutations at Arg356 (Arg356Pro, Arg356Leu, and Arg356Gln), for association of myelination disorder. Since MAT I/III catalyzes conversion of methionine to produce S-adenosylmethionine (SAM), supplementation of SAM is a therapeutic strategy to improve neurological problems. Hypermethioninemia can be corrected by methionine restriction; however, it may cause depletion of SAM. DNA testing is important for early diagnosis to prevent neurological manifestations.
... Giai đoạn 1000 ngày đầu đời là thời kỳ vàng cho sự phát triển chiều dài của trẻ và lập trình sức khỏe của một cá thể. Chậm tăng chiều cao có thể gây ra các vấn đề sức khỏe về lâu dài.Tăng chiều dàitrong 6 tháng đầu đời phụ thuộc rất nhiều vào cách nuôi dưỡng trẻ.Tuy vậy, tăng trưởng chiều dàikém và tình trạng SDD thấp còi có thể do sức khỏe mẹ, đặc điểm thai kỳ, đặc điểm lúc sinh, bệnh tật… và có thể là biểu hiện của một bệnh lý tiềm ẩn ở trẻ [1][2][3][4].Theo dõi tốc độ tăng trưởng chiều dài ở trẻ từ 0 -5 tháng tuổi rất quan trọng để phát hiện và can thiệp sớm các vấn đề sức khỏe, giúp trẻ có cơ hội tăng trưởng tối đa. ...
July 2023
Pediatric Research
... To ensure accurate diagnosis, excluding other medical conditions that may present with similar clinical features as GHD is essential. Thyroid function tests, for instance, are vital as hypothyroidism can mimic GHD due to its similar growth-retarding effects [38]. Additionally, a complete blood count and erythrocyte sedimentation rate may help identify chronic diseases or inflammatory conditions that can adversely affect growth [39]. ...
November 2020
... However, neither the Fleischner Society Guidelines nor the SPR guidelines mention pulmonary nodules in persons with systemic autoimmune/rheumatologic conditions. Pulmonary nodules are well-known features in a number of autoimmune/rheumatologic conditions including vasculitides (e.g., giant cell arteritis, Behcet's disease, ANCA-associated, Kawasaki disease), Crohn's disease, IgG4-related disease, systemic lupus erythematosus, and Evan's syndrome [21][22][23][24][25][26][27]. Additionally, persons with aSSc are also at risk for pulmonary malignancy (adenocarcinoma) [28], although it is less clear whether jSSc is associated with similar risk. ...
June 2020
Clinical Rheumatology
... Administering SEP is found to be much more efficient in elevating the intracellular BH 4 levels than administering BH 4 itself (64,65). SEP has been tested as a therapeutic for different metabolic disorders, such as diabetes, hypertension, and cardiovascular diseases (66,67). It has also been used for treating phenylketonuria (PKU), the condition defective in phenylalanine catabolism, in phase III clinical trials (68,69,70,71). ...
October 2016
Human Molecular Genetics
... Last but not least, MPS type I has also been modeled with the help of this revolutionary technology. In 2019, Lito S. et al. [58] and Suga M et al. [59] reprogrammed and characterized dermal fibroblasts and PBMCs, respectively, into iPSC lines. The fibroblast-derived pluripotent cells were obtained from a patient with the Hurler form of the disease, whereas PBMCs were collected from a patient suffering from Scheie. ...
February 2019
Stem Cell Research
... The progression of bone pathology (joint mobility, skeletal deformity, short stature) cannot be reversed at any age, only slowed with ERT 78,79 . If ERT is initiated before the development of dysmorphism in facial features or hearing impairment, these symptoms can be stalled, but corneal clouding cannot be avoided 79 . ...
February 2018
Molecular Genetics and Metabolism
... As one of the more serious complications of hypertension, the incidence rate of this disease is relatively high in the middle-aged and elderly population 2 . For hypertensive patients, the strength of their blood vessel wall is often relatively low, and most elderly patients may have vascular wall rupture under the influence of emotional excitement or overwork, which may lead to HCH 3 . In the clinical treatment process, most patients are accompanied by vomiting, severe head pain, consciousness mode, and limited limb movement when they are suffering from HICH 4 . ...
December 2017
Pediatric Neurosurgery
... Notably, rhGH treatment in SGA children reduces subcutaneous WAT without affecting abdominal WAT, increases muscle mass, and normalizes bone mineral density. At the molecular level, rhGH influences key adipokines, decreasing leptin and high-molecular-weight adiponectin 6 while concurrently improving lipid parameters by reducing the abnormally elevated serum levels of total cholesterol (TC), non-high-density lipoprotein (HDL) cholesterol, and low-density lipoprotein (LDL) cholesterol in SGA children [7][8][9][10] . Despite these established effects, the impact of rhGH treatment on children's lipid profiles has not been studied in detail to date. ...
November 2017
The Indian Journal of Pediatrics
... The findings of such studies may clarify the knowledge about LSD. In addition, this study may provide future insights to potential candidates for genetic counseling and modern treatment both at home and abroad [6]- [8]. So our objective was to explore clinical & laboratory profile of various forms of childhood Lysosomal storage disorders. ...
September 2017
Molecular Genetics and Metabolism Reports
... Krabbe disease [12] Perinatal asphyxia [5] Gaucher disease [13] Near-drowning [5] Adenylosuccinate lyase deficiency [14] Cardiac/respiratory arrest [2] Lesch-Nyhan syndrome [15] Traumatic asphyxia [2] Glutaric aciduria [16] ...
August 2017
Pediatric Neurosurgery