Multicriteria GIS-based assessment of biomass energy potentials in Nigeria.

The understanding of the geographical variability of biomass energy is an essential requirement for the optimal location of biomass energy conversion plants. This research presents a multicriteria GIS-based assessment of biomass energy potentials and the appropriate siting of biomass plants in Nigeria. The study applies the weighted overlay multicriteria decision analysis method. Crop and forest areas, settlement (energy supply areas), shrub/grasslands, barren land, water bodies, distance from water sources, road accessibility, topography, and aspect are the criteria that were considered for locating a biomass facility in this study. The results suggest that the theoretical, technical, and economical energy potentials of crop residues are highest in the North-East region of Nigeria and estimated at 1,163.32, 399.73, and 110.56 PJ/yr, respectively, and lowest in the South-East at 52.36, 17.99, and 4.98 PJ/yr, respectively. The theoretical, technical, and economical energy potentials of forest residues are highest in the North-West, estimated at 260.18, 156.11, and 43.18 PJ/yr, respectively, and lowest in the South-East at 1.79, 1.08, and 0.30 PJ/yr, respectively. Although most areas were identified to be suitable for siting biomass plants across Nigeria, the most suitable areas are located in the northern part of the country and include Niger, Zamfara, the Federal Capital Territory, Nassarawa, Kano, Kebbi, Kaduna, and Borno State. The study supports the Nigerian bio-energy policy that proposes to effectively utilize Nigeria's non-fuelwood as a substitute for the felling of trees. This is very important to strengthen its commitment at the COP26 International Climate Conference, which is to conserve and restore its forest. Furthermore, this study will serve as a good reference for policymakers to make well-informed decisions on tackling the energy insecurity in Nigeria.

Optimal sites for agricultural and forest residues energy conversion plant using geographic information system.

The Federal Government of Nigeria (FGN) has committed to net-zero emission development pathways to respond to the Paris Agreement adopted in 2015. However, the country is in dire need of energy to support its developmental ambitions. Therefore, it is necessary to consider green energy technologies to support both socioeconomic development and to meet the FGN's emission reduction target. In view of this, the current work presents the optimal sites for bioenergy plants in a state in Nigeria using Geographic Information System (GIS). Key findings suggest that 62.03 PJ/yr and 4.12 PJ/yr of energy could be derived from crop residues and forest residues, respectively, to support the state's bioenergy development. The crop residues considered include plantain (stem), oil palm (shell and fibre), maize (stalks) and cassava (peel and stalks). Six criteria were used in selecting the optimal sites, and include biomass residue distribution, settlement, road accessibility, nearness to waterline, slope and aspect. These criteria were incorporated into the ArcGIS platform through the weighted overlay tool. Strategically, the analysis presents seven sites for biomass plants to sustainably meet part of the energy needs. The efforts of the current work which supports not less than three SDGs-SDG 7 (Clean and Affordable Energy), SDG 12 (Responsible Consumption and Production) and SDG 13 (Climate Action), will assist policymakers in Nigeria to make appropriate policies within the climate change space.

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

A diverse range of genetic aberrations can lead to Autistic Spectrum Disorder (ASD) and many of these have been identified via Next Generation Sequencing (NGS) as part of large scale consortium studies. ASD is a phenotypically variable disorder and detailed clinical descriptions are essential to appreciate genotype-phenotype relationships. In this report, we provide a comprehensive clinical description of a child with ASD in whom a TBR1 variant was identified. We review this case in the context of the current TBR1 literature and highlight the variable spectrum of disease associated with this gene. The phenotypic information outlined within the literature is incomplete, exemplifying the limitations of massively-parallel sequencing studies with regards to clinical annotation. We suggest that future reporting of ASD variants should include standardised phenotypic descriptions. This would develop a more thorough understanding of genotype-phenotype relationship, so allowing us to better counsel and support our patients.

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi-Goutières syndrome. To date, seven genes related to Aicardi-Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I interferon signalling secondary to gain-of-function mutations in IFIH1 can result in a range of neuroinflammatory phenotypes including classical Aicardi-Goutières syndrome. It is of note that none of the patients with a neurological phenotype so far described with mutations in this gene was reported to demonstrate cutaneous involvement. We present a family segregating a heterozygous pathogenic mutation in IFIH1 showing dermatological involvement as a prominent feature, variably associated with neurological disturbance and premature tooth loss. All three affected individuals exhibited increased expression of interferon-stimulated genes in whole blood, and the mutant protein resulted in enhanced interferon signalling in vitro, both in the basal state and following ligand stimulation. Our results further extend the phenotypic spectrum associated with mutations in IFIH1, indicating that the disease can be confined predominantly to the skin, while also highlighting phenotypic overlap with both Aicardi-Goutières syndrome and Singleton-Merten syndrome.

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a highly pleiotropic disorder, particularly affecting the eye, brain, bone, and gut. The potential catastrophic sequelae of the associated gastrointestinal phenotype, variably characterised by both chronic bleeding and liver failure, is becoming increasingly apparent. Here we report a probable case of CRMCC with pre- and postnatal growth restriction, bilateral exudative retinopathy, a pathognomonic pattern of intracranial calcification, white matter disease, osteopenia with a tendency to fractures, and chronic gastrointestinal bleeding secondary to abnormal dilated vasculature. The gastrointestinal endoscopic findings were characteristic of gastric antral vascular ectasia (GAVE). Treatment with a combination of oral oestrogen and progesterone ameliorated the gastrointestinal blood loss such that monthly blood transfusions could be stopped. The benefit of this relatively benign therapy in managing the potentially life-limiting consequences of an abnormal gastrointestinal vasculature in CRMCC is of great interest.

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients-two male-female sibling pairs, one pair born to consanguineous parents, and an unrelated female-with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait.

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Although the diagnosis of spondyloenchondrodysplasia (SPENCD) can only be made in the presence of characteristic metaphyseal and vertebral lesions, a recent report has highlighted the pleiotropic manifestations of this disorder which include significant neurological involvement and variable immune dysfunction. Here we present two patients, one of whom was born to consanguineous parents, further illustrating the remarkable clinical spectrum of this disease. Although both patients demonstrated intracranial calcification, they were discordant for the presence of mental retardation, spasticity and white matter abnormalities. And whilst one patient had features consistent with diagnoses of Sjögren syndrome, polymyositis, hypothyroidism and severe scleroderma, the other patient had clinical manifestations and an autoantibody profile of systemic lupus erythematosus. These cases further illustrate the association of SPENCD with immune dysregulation and highlight the differential diagnosis with Aicardi-Goutières syndrome and other disorders associated with the presence of intracranial calcification. Undoubtedly, identification of the underlying molecular and pathological basis of SPENCD will provide important insights into immune and skeletal regulation.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent evidence suggests that Coats plus and LCC represent the same clinical entity with a common primary pathogenesis involving a small vessel obliterative microangiopathy. Here, we describe eight previously unreported cases, and present an update on one of the original Coats plus patients to highlight the emerging core clinical features of the "cerebroretinal microangiopathy with calcification and cysts" (CRMCC) phenotype.