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Abstract Background Globally, very preterm birth is a health concern leading to various developmental difficulties such as poor motor and/or cognitive function. For infants born very preterm, family-centered care (FCC) might promote developmental skills over the time in an appropriate enriched environment. The purpose of this study is to systematically review and assess the evidence of FCC interventions on the motor and neurobehavioral development in very preterm infants. Additionally, this review aims to determine the factors that might affect infant development. Methods Systematic review will be carried out by including (a) quasi-randomized controlled trials and randomized controlled trials (b) of very preterm born infants (born < 32 weeks of gestation), and their primary caregivers will be included in the review (c) who received FCC-based interventions such as collaborative interaction between a healthcare professional and a parent, home program, home visits, and parent education, and (d) measure motor and neurobehavioral function. Electronic databases such as Scopus, PubMed, Embase, Cochrane Library, Web of Science, CINAHL, and PsycINFO will be searched using database-specific terms. Additionally, searches will be carried out in ProQuest, and references of included studies will be searched. Two review authors, independently, will conduct the screening, data extraction, and critical appraisal of included studies. If possible, a meta-analysis will be undertaken to assess the effect of the FCC on the motor and neurobehavior of premature infants. Conclusion The review will provide insights regarding the effect of the FCC on preterm infants. This systematic review will guide the clinicians on the feasibility of practicing FCC that might support and promote the integration of parents into various rehabilitation settings. Systematic review registration Protocol has been registered in PROSPERO on August 26, 2020.

Background Sex is a prominent risk factor for abdominal aortic aneurysms (AAAs), and angiotensin II (Ang II) induces AAA formation to a greater degree in male than in female mice. We previously reported that cytochrome P450 1B1 contributes to the development of hypertension, as well as AAAs, in male mice. We also found that a cytochrome P450 1B1‐generated metabolite of testosterone, 6β‐hydroxytestosterone (6β‐OHT), contributes to Ang II‐induced hypertension and associated cardiovascular and renal pathogenesis in male mice. The current study was conducted to determine the contribution of 6β‐OHT to Ang II‐induced AAA development in Apoe–/– male mice. Methods and Results Intact or castrated Apoe–/–/Cyp1b1+/+ and Apoe–/–/Cyp1b1–/– male mice were infused with Ang II or its vehicle for 28 days, and administered 6β‐OHT every third day for the duration of the experiment. Abdominal aortas were then evaluated for development of AAAs. We observed a significant increase in the incidence and severity of AAAs in intact Ang II‐infused Apoe–/–/Cyp1b1+/+ mice, compared with vehicle‐treated mice, which were minimized in castrated Apoe–/–/Cyp1b1+/+ and intact Apoe–/–/Cyp1b1–/– mice infused with Ang II. Treatment with 6β‐OHT significantly restored the incidence and severity of AAAs in Ang II‐infused castrated Apoe–/–/Cyp1b1+/+ and intact Apoe–/–/Cyp1b1–/– mice. However, administration of testosterone failed to increase AAA incidence and severity in Ang II‐infused intact Apoe–/–/Cyp1b1–/– mice. Conclusions Our results indicate that the testosterone‐cytochrome P450 1B1‐generated metabolite 6β‐OHT contributes to Ang II‐induced AAA development in Apoe–/– male mice.

Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as a milder, late-onset type I and a severe early-onset type II disease. The presence of a cherry-red spot is a well-established ophthalmological clue to the disorder. We present a clinical-radiological report of seven unrelated patients with molecularly confirmed sialidosis type II. To the best of our knowledge, This is the largest reported series of patients with Sialidosis type II. A novel, previously unreported ophthalmic phenotype of bulls-eye maculopathy, is described. All seven phenotypically heterogeneous patients had the same pathogenic variant (c.679G > A; p.Gly227Arg) at a homozygous level in the NEU1 gene. We propose that this is a common mutation in north Indians for this rare disorder. We also observed an overlap of symptoms and a continuum of phenotypes in type I and II Sialidosis. Keywords: Common mutation, Bull's eye maculopathy, Sialidosis type II, NEU1, Polypheny, North India

Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes. Data on genetic variations in Indian patients with PFIC are lacking. Methods Coding and splice regions of the three genes were sequenced in unrelated Indian children with PFIC phenotype. The variations identified were looked for in parents, 30 healthy persons and several variation databases, and their effect was assessed in-silico. Results Among 25 children (aged 1–144 months), nine (36%) had unique major genomic variations (ATP8B1: 4, ABCB11: 3 and ABCB4: 2). Seven had homozygous variations, which were assessed as ‘pathogenic’ or ‘likely pathogenic’. These included: (i) four amino acid substitutions (ATP8B1: c.1660G > A/p.Asp554Asn and c.2941G > A/p.Glu981Lys; ABCB11: c.548 T > C/p.Met183Thr; ABCB4: c.431G > A/p.Arg144Gln); (ii) one 3-nucleotide deletion causing an amino acid deletion (ATP8B1: c.1587_1589delCTT/p.Phe529del); (iii) one single-nucleotide deletion leading to frame-shift and premature termination (ABCB11: c.1360delG/p.Val454Ter); and (iv) a complex inversion of 4 nucleotides with a single-nucleotide insertion leading to frame-shift and premature termination (ATP8B1: c.[589_592inv;592_593insA]/p.Gly197LeufsTer10). Two variations were found in heterozygous form: (i) a splice-site variation likely to cause abnormal splicing (ABCB11: c.784 + 1G > C), and (ii) a nucleotide substitution that created a premature stop codon (ABCB4: c.475C > T/p.Arg159Ter); these were considered as variations of uncertain significance. Three of the nine variations were novel. Conclusions Nine major genomic variations, including three novel ones, were identified in nearly one-third of Indian children with PFIC. No variation was identified in nearly two-thirds of patients, who may have been related to variations in promoter or intronic regions of the three PFIC genes, or in other bile-salt transport genes.

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.

Background: The hip joint is a ball and socket type of synovial joint comprising of head of femur and acetabulum of hip bone. Morphological variations of hip joint are noticed in different population resulting from racial, ethnic, and sexual differences. Present study was aimed to study acetabular depth, diameter and acetabular depth ratio of hip joint of south Indian population. Material and Methods: Present study was prospective, observational study, conducted 264 AP plain radiographs of normal hip joints (147 males and 117 females). The age group ranged from 20-90 years. All linear measurements including acetabular depth, acetabular diameter, Acetabular depth ratio & femoral head diameter were measured using Dicom viewer. Results: In the present study, acetabular depth (AD) was observed to be higher in males than in females, Higher mean acetabular diameter value was recorded on right side when compared to left side irrespective of gender. When the AD on the left side of males and females were compared, the difference in mean acetabular depth was found to be statistically significant (P<0.001). Higher mean acetabular diameter value was recorded on right side when compared to left side in both the genders. When comparison of Acetabular diameter was made between both genders irrespective of side, it was found that the value was highly significant (P<0.001). The mean value of Acetabular depth ratio (ADR) was found to be more in men than in women, showing a dysplastic tendency in the former. No statistical significance was found when ADR was compared between male right and left sides (p - 0.864) The mean value of ADR was found to be more in men than in women, showing a dysplastic tendency in the former. Conclusion: Values of acetabular depth, acetabular diameter, Acetabular depth ratio & femoral head diameter were more in men as compared to women, while laterality has no significant difference. [ABSTRACT FROM AUTHOR]