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Long-term induction of endogenous BMPs expansion issue through antibacterial dual community hydrogels regarding rapidly big bone tissue deficiency fix.
Official data are not sufficient for monitoring the United Nations Sustainable Development Goals (SDGs) they do not reach remote locations or marginalized populations and can be manipulated by governments. Citizen science data (CSD), defined as data that citizens voluntarily gather by employing a wide range of technologies and methodologies, could help to tackle these problems and ultimately improve SDG monitoring. However, the link between CSD and the SDGs is still understudied. This article aims to develop an empirical understanding of the CSD-SDG link by focusing on the perspective of projects which employ CSD. Specifically, the article presents primary and secondary qualitative data collected on 30 of these projects and an explorative comparative case study analysis. It finds that projects which use CSD recognize that the SDGs can provide a valuable framework and legitimacy, as well as attract funding, visibility, and partnerships. But, at the same time, the article reveals that these projects also encounter several barriers with respect to the SDGs a widespread lack of knowledge of the goals, combined with frustration and political resistance towards the UN, may deter these projects from contributing their data to the SDG monitoring apparatus.
The online version contains supplementary material available at 10.1007/s11625-021-01001-1.
The online version contains supplementary material available at 10.1007/s11625-021-01001-1.MELAS is a mitochondrial cytopathy, with maternal inheritance and variable phenotype expression and severity depending on the degree of heteroplasmy. Liproxstatin-1 purchase It presents with waxing and waning symptoms, in form of recurrent migrainous headache, transient loss of sight, hemianopsia, transient ischemic attack, or stroke-like episodes, focal seizures and even periods of altered sensorium. link2 Here we present an 8-year-old boy presented with recurrent episodes of migrainous headache associated with vomiting sometimes and recurrent episodes of loss of vision for the past one year. As many of these episodes were precipitated by some febrile illness, so the child was suspected to have neurotuberculosis outside, because of Mantoux positivity. His mother also had similar episodes of recurrent headache and ultimately succumbed to cerebrovascular accident. Mitochondrial genome sequencing revealed heteroplasmic missense variation in the MT-TL1 gene (chrM3243A>G).Elizabethkingia anophelis is an emerging pathogen causing neonatal meningitis. Here, we describe the challenging course and necessity of a long 14-week duration of antibiotics in a 12-day-old male neonate with E. anophelis septicemia and meningitis. He developed ventriculitis and hydrocephalus, and needed a ventriculoperitoneal shunt. At 5-month follow-up he had developmental delay.Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy presented with global developmental delay and stiffness of limbs. Examination revealed normocephaly and generalized dystonia. MRI T2WI was suggestive of symmetrical posterior putaminal atrophy. Tandem mass spectroscopy (TMS) and urinary gas chromatography-mass spectrometry (GCMS) were normal. Genetic analysis revealed a novel pathogenic homozygous missense variant in GCDH gene. An 8-year-old girl younger sibling of above child also had developmental delay and dystonia, posterior putamen atrophy in the MRI of brain, and same pathogenic variant in GCDH gene. Parents screening showed heterozygous status in both parents of same pathogenic variant. Any child who presents with global developmental delay with dystonia even with normocephaly, isolated symmetrical posterior putamen changes, with normal TMS and GCMS, a possibility of glutaric aciduria type 1 has to be considered.Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene, located on chromosome 4. Till date, only 28 patients with this disorder have been reported in the literature. We report a new case of CYP2U1-related spastic paraplegia-56. We also reviewed previously published patients with this condition from various databases. Next-generation sequencing in the index child detected a novel homozygous two base pair deletion in exon 2 of the CYP2U1 gene that results in a frameshift and premature truncation of the protein 19 amino-acid downstream to codon 361. Together with the presented case, 29 were available for analysis. The mean age at the diagnosis was 17.84 ± 6.86 years. Intellectual disability/cognitive dysfunction and delayed walking or gait disturbance were the most common presenting features. Around half of the patients had neuroregression in between 1 and 2 years. It is clinically imperative to suspect this disease in children with early-onset spastic paraparesis, especially in cases accompanied by baseline development delay or cognitive impairment and consanguinity.Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy.
Hashimoto encephalopathy (HE) is a rare condition associated with autoimmune thyroid disease. We aimed to report the youngest patient with Down syndrome and HE with an unusual presentation.

Six years and six months old boy with Down syndrome admitted due to loss of speech. His physical development was appropriate for his age and had no goiter. Neurological examination revealed the absence of eye contact and stereotypic movements. Autism spectrum disorder was considered based on his result on Gilliam autism evaluation scale. He had subclinical hypothyroidism with markedly elevated anti-thyroid peroxidase antibody level, rare spikes in the frontocentral area were found in electroencephalography, and cranial magnetic resonance imaging was normal. Neurologic improvement was observed to a treatment with glucocorticoid and thyroid hormone.

HE might be considered in patients with Down syndrome along with progressive cognitive decline and autistic regression.
HE might be considered in patients with Down syndrome along with progressive cognitive decline and autistic regression.
Spontaneous spinal intramedullary hematoma is a rare cause of acute paraplegia in adults and is extremely uncommon in children. Very few cases with no apparent etiology (such as trauma, vascular lesions) have been reported in adults. We did not find any apparent cause for the hematoma in our patient and to the best of our knowledge, this is first case reported in infants.

We present the case of a 6-month-old female child admitted with acute-onset paraplegia, bladder bowel involvement, and no history of trauma or bleeding diathesis. The MRI showed an intramedullary mass extending from the D11-L1 level. The mass was excised and histopathology revealed it to be an organizing hematoma.

Our case highlights that though it is a rare entity, there is a need for more awareness when dealing with children with sudden paraplegia, acute retention of urine, or neurological deficit. link3 Early diagnosis and prompt surgery are crucial to achieve the best neurological outcome.
Our case highlights that though it is a rare entity, there is a need for more awareness when dealing with children with sudden paraplegia, acute retention of urine, or neurological deficit. Early diagnosis and prompt surgery are crucial to achieve the best neurological outcome.Despite the availability of electroconvulsive therapy (ECT) and being one of the safest modalities of treatment, the use of ECT is still underused in patients with mental retardation with catatonia. However, the available limited literature suggests that ECT can be used safely with proper monitoring and assessment, especially in those presenting with catatonia in mental retardation. We treated a 17-year-old boy who presented to us with catatonia with mental retardation with a course of 12 ECT, with which the catatonia resolved completely. Review of the literature suggests that the occurrence of catatonia is rare in mental retardation. However, ECT can be used in a rare case with precautions.Drug reaction with eosinophilia and systemic symptoms syndrome is a severe type IV (delayed T-cell-dependent reaction) hypersensitivity reaction, characterized by fever, mucocutaneous eruptions, eosinophilia, and systemic inflammatory involvement. It usually begins a few weeks after the exposure to offending drug. Commonly implicated drugs are aromatic anticonvulsants (phenytoin, phenobarbitone, and carbamazepine) and sulfa drugs (sulfonamides, sulfasalazine, and dapsone). It is a potentially life-threatening hypersensitivity reaction. Here we report a case of drug reaction with eosinophilia and systemic symptoms syndrome associated with carbamazepine, which was successfully treated with intravenous methylprednisolone."Cementifying fibroma" is a benign tumor of the fibroblastic tissue containing masses of cementum-like calcified tissue, usually occurring between the third and fourth decades. Cementifying-ossifying fibromas are rare non-odontogenic, fibro-osseous tumors of the periodontal ligament that arise from the mesodermal germ layer3. We report a 12-year-old male child, who presented with a swelling in the left temporal region near the angle of the left eye. These non-neoplastic, locally destructive tumors present as an osseous lesion involving the mandible, maxilla, zygoma, paranasal sinuses, orbit, and rarely the petromastoid regions. The preoperative diagnosis was not clear even with CT and MRI, and, hence, all fibro-osseous lesions were considered as differential diagnosis. The lesion was surgically resected completely, and the histology confirmed it as a cementifying fibroma. According to the WHO classification, this is a variant of cementifying fibromas, which represent a subgroup of cementomas, that is, fibro-osseous lesions containing cementum. Histologically, these are fibrous tissues with calcified structures resembling bone and cementum. Cranioplasty was done simultaneously, with successful clinical results.
The etiological or causal factors of pediatric craniovertebral junction anomalies (CVJA) are still unknown. The disease bears a major proportion of economic and social burdens over a developing country like ours. This article aims to highlight an important modifiable factor that may prove to have a critical causal relationship with disease incidence.

This is a cross-sectional, single-institutional study, wherein the socioeconomic status (SES) of all the operated pediatric patients of CVJA, between 2014 and 2019, was studied. Variables including the patient's age, sex, residence status (rural or urban), perioperative data, length of stay, follow-up, and the time between revision surgery (if required) and clinical presentation were noted. Data regarding average household and type of family (nuclear or joint) were also enquired.

Sixty-six patients (MF 5610) with a mean age of 13.14 ± 3.44 years were included. The mean annual family income was 11.1 ± 12.1 thousands. 43.9% belonged to joint family; according to Kuppuswami and Prasad scale, 42.
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