Hip Displacement in Cerebral Palsy: The Role of Surveillance

IntroductionHip displacement is common in cerebral palsy (CP) and is related to the severity of neurological and functional impairment. It is a silent, but progressive disease, and can result in significant morbidity and decreased quality of life, if left untreated. The pathophysiology of hip displacement in CP is a combination of hip flexor-adductor muscle spasticity, abductor muscle weakness, and delayed weight-bearing, resulting in proximal femoral deformities and progressive acetabular dysplasia. Due to a lack of symptoms in the early stages of hip displacement, the diagnosis is easily missed. Awareness of this condition and regular surveillance by clinical examination and serial radiographs of the hips are the key to early diagnosis and treatment.Hip surveillance programmesSeveral population-based studies from around the world have demonstrated that universal hip surveillance in children with CP allows early detection of hip displacement and appropriate early intervention, with a resultant decrease in painful dislocations. Global hip surveillance models are based upon the patients’ age, functional level determined by the Gross Motor Function Classification system (GMFCS), gait classification, standardized clinical exam, and radiographic indices such as the migration percentage (MP), as critical indicators of progressive hip displacement.ConclusionDespite 25 years of evidence showing the efficacy of established hip surveillance programmes, there is poor awareness among healthcare professionals in India about the importance of regular hip surveillance in children with CP. There is a need for professional organizations to develop evidence-based guidelines for hip surveillance which are relevant to the Indian context.     

Single step route to highly transparent,conductive and hazy aluminium doped zinc oxide films

Light scattering yet transparent electrodes are important for photovoltaics as they increase device efficiency by prolonging light path lengths. Here, we present a novel single step route to highly textured Al doped ZnO thin films on glass substrates that show a minimum resistivity of ∼3 × 10⁻³ Ω cm and high visible light transmittance of 83% while still maintaining high haze factor of 63%. Roughness was imparted into the ZnO films during the synthetic process using acetylacetone and deionized water as additives. The highly hazy yet visible and near infrared transparent nature of the conductive ZnO:Al films allow it to be potentially used as an electrode material in amorphous and microcrystalline silicon solar cells.

A single step chemical vapour deposition route to highly conductive, transparent and hazy Al doped ZnO.     

Fatty acid transport protein 1 is required for nonshivering thermogenesis in brown adipose tissue

Nonshivering thermogenesis in brown adipose tissue (BAT) generates heat through the uncoupling of mitochondrial beta-oxidation from ATP production. The principal energy source for this process is fatty acids that are either synthesized de novo in BAT or are imported from circulation. How uptake of fatty acids is mediated and regulated has remained unclear. Here, we show that fatty acid transport protein (FATP)1 is expressed on the plasma membrane of BAT and is upregulated in response to cold stimuli, concomitant with an increase in the rate of fatty acid uptake. In FATP1-null animals, basal fatty acid uptake is reduced and remains unchanged following cold exposure. As a consequence, FATP1 knockout (KO) animals display smaller lipid droplets in BAT and fail to defend their core body temperature at 4 degrees C, despite elevated serum free fatty acid levels. Similarly, FATP1 is expressed by the BAT-derived cell line HIB-1B upon differentiation, and both fatty acid uptake and FATP1 protein levels are rapidly elevated following isoproterenol stimulation. Stimulation of fatty uptake by isoproterenol required both protein kinase A and mitogen-activated kinase signaling and is completely dependent on FATP1 expression, as small-hairpin RNA-mediated knock down of FATP1 abrogated the effect.     

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

PURPOSE: Pseudoxanthoma elasticum (PXE; [MIM 264800]) is an autosomal recessive systemic disorder characterized by progressive degeneration and calcification of elastic fibers in connective tissue. The phenotype is variable, with cutaneous, vascular, and ophthalmic abnormalities. The disorder is a consequence of mutations in the ABCC6 gene. Visual impairment is mainly due to neovascular complications, and retinal function is usually assumed to be normal. The purpose of this study was the objective assessment of macular and generalized retinal function in unrelated patients with clinical and/or genetic features of PXE. METHODS: Four unrelated patients carrying a clinical diagnosis of PXE presented with unexplained visual loss. After ophthalmic examination, retinal and macular function was assessed by full-field electroretinogram (ERG) and pattern ERG, respectively, according to ISCEV (International Society for Clinical Electrophysiology of Vision) recommendations. Molecular analysis of the ABCC6 gene was performed in three patients by dHPLC (denaturing high-performance liquid chromatography) and direct sequencing. RESULTS: Full-field ERG revealed significant reduction of cone and rod responses in all four patients. Funduscopic appearances varied. Three patients were found to carry ABCC6 mutations. In case 1, a novel nonsense mutation (p.L1474X) was detected in exon 31 paired with a splice-site mutation. Mutation analyses in cases 3 and 4 revealed previously reported ABCC6 mutations. CONCLUSIONS: These findings suggest that retinal dysfunction in PXE may not be uncommon. The mechanism underlying retinal dysfunction is unknown but may result from metabolic disturbance leading to retinal toxicity with a possible role of modifying genetic or environmental factors rather than specific ABCC6 mutations.     

The Incidence,Diagnosis, and Treatment practices of Developmental Dysplasia of Hip (DDH) in India: A Scoping Systematic Review

PurposeTo identify literature on variations and knowledge gaps in the incidence, diagnosis, and management of developmental dysplasia of hip (DDH) in India.MethodsFollowing standard methodology and PRISMA-ScR guidelines, a scoping systematic review of literature on incidence, diagnosis, and treatment of DDH in India was conducted. Studies conducted in India, published in indexed or non-indexed journals between 1975 and March 2021, were included in the search.ResultsOf 57 articles which met the inclusion criteria, only 33 studies (57.8%) were PubMed-indexed. Twenty-eight studies (49%) were published in Orthopaedic journals and majority had orthopaedic surgeon as the lead author (59.6%). Sixteen studies were mainly epidemiological, 20 reported screening/diagnosis, and 21 reported treatment of DDH. Almost 90% of the studies (51) were Level 4 or 5 according to the levels of evidence in research. There is lack of clarity in the definition of hip dysplasia and screening/diagnostic guidelines to be used. The incidence of hip dysplasia in India is reported to be 0–75 per 1000 live births, with true DDH between 0 and 2.6/1000. Late-presenting DDH is common in India, with most studies reporting a mean age of > 20 months for children presenting for treatment. The treatment is also varied and there is no clear evidence-based approach to various treatment options, with lack of long-term studies.ConclusionThis systematic scoping review highlights various knowledge gaps pertaining to DDH diagnosis and management in India. High-quality, multicentric research in identified gap areas, with long-term follow-up, is desired in future.     

Demographic and Practice Variability Amongst Indian Centres in a Multicentre Prospective Observational Study on Developmental Dysplasia of the Hip

BackgroundSince 2017, five Indian centres have enrolled into the International Hip Dysplasia Registry for prospective collection of data on Developmental Dysplasia of Hip (DDH).AimsTo assess how baseline patient characteristics and initial treatment modalities differ across these five centres.MethodsRegistry data collected over 3 years were analyzed. Children with DDH that had radiograph-based diagnoses were included.ResultsCollectively, there were 234 hips (181 patients), of which 218 had undergone surgery. Overall, median age at presentation was 25.3 months (IQR 16.8–46.0); female/male ratio was 2.6:1 (range 1.46–4.75:1); with 42%, 29%, and 29% unilateral left, bilateral and unilateral right hip dislocations respectively. Most were IHDI grade III and IV dislocations (94%). Closed reduction was performed at all but one centre, at median 15.3 months (IQR 9.6–21.1). Open reduction (OR) as a stand-alone procedure was performed at all centres, at median 20.8 months (IQR 15.4–24.9). Combination of OR with a single osteotomy, femoral (FO) or acetabular (AO), was performed at all centres at median 29.7 months (IQR 22.1–43.5). However, for the same age group, three centres exclusively performed FO, whereas the other two exclusively performed AO. The combination of OR with both FO and AO was used at all centres, at median 53.4 months (IQR 42.1–70.8).ConclusionsThe preliminary findings of this multi-centre study indicate similar patient demographics and diagnoses, but important differences in treatment regimens across the five Indian centres. Comparison of treatment regimens, using the ‘centre’ as a predictive variable, should allow us to identify protocols that give superior outcomes.     

Epiphyseal separations after neonatal osteomyelitis and septic arthritis

Complete separation of an epiphysis is a rare complication of neonatal osteomyelitis and septic arthritis. We report two cases of pathologic epiphyseal separation after neonatal osteomyelitis, involving the distal and proximal femoral epiphyses with a follow-up of 2 and 7.5 years, respectively. Birth trauma, scurvy, and nonaccidental injury should be considered in the differential diagnosis of pathologic epiphyseal slip. The pitfalls in diagnosis are many, and plain radiograms of unossified epiphyses are often misleading. A high index of suspicion and the use of imaging modalities are useful in making an early diagnosis of epiphyseal slip. The optimal treatment is controversial, and the long-term prognosis is uncertain. The potential for recovery appears to be excellent, provided an early diagnosis is made and prompt treatment by anatomic reduction of the displaced epiphysis is instituted.