Approaching a Dysmorphic Newborn

Background: Dysmorphology combines concepts, knowledge and techniques from field of embryology, clinical genetics and pediatrics. It deals with people who have congenital abnormalities and their families. Clinical delineation of dysmorphism and dysmorphic syndromes is crucial for patient management and family counseling. Patients and Method: Forty case mothers and neonates, 83 control mothers and neonates were recruited in the study. Face to face interviews were conducted with the mothers of both cases and controls. Case's mothers and neonates were subjected to certain investigations according to dysmorphic anomaly and when needed. Results: The study showed that increased risk of having a dysmorphic child was associated with high consumption of legumes and the use of kerosene in cooking stoves. Their Odd Ratio (OR) and Confidence Interval (CI) respectively were [OR=15558.0; CI 137.0-17716.2] and [OR=186.7; CI 42.3-824.5]. Maternal demographic risk factors were, medication intake (OR=29.62; CI 3.38-112.5), diseases during pregnancy (OR=24.13; CI 5.92-114.18), maternal occupation (OR=15.4; CI 1.78-132.8), and educational attainment (OR=2.85; CI 1.19-6.86). In rural areas the rate of having dysmorphic child is higher than that in urban areas (OR=11.85; CI 3.60-38.99), (p-value=0.00). Consanguinity (OR=4.35; CI 1.927-9.796), was a key risk factor contributing to dysmorphology. Drinking water which is obtained by pumps was significant in this study (OR=27.3; CI 3.4-222.7) as well as ghee consumption (OR=6.3; CI 2.4-16.4). Conclusion: In conclusion, the considerable challenge posed by dysmorphic abnormalities calls for the development of prevention programs through the establishment of community genetic services particularly those related to maternal education and environmental exposures. These primary prevention measures should be integrated into primary health care. Keywords: Dysmorphology, morphogenesis, dysmorphic syndromes, teratology, ecogenetics Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 23-4

Fetal chromosome abnormalities and congenital malformations: an Egyptian study

Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic counseling in 22.8% of the study cases was positive family history of CNS malformations, and in 17.9% was chromosomal abnormalities in previous child. Also, the results showed that the indications for amniocentesis in 60.8% were history of having previous child with Down syndrome, and in 15.3% were advanced maternal age. The results of chromosomal analysis of amniotic fluid samples; 21 cases (19.3%) had chromosomal abnormalities, where trisomy 21 (Down syndrome) was detected in 10 cases (9.2%), unbalanced translocation Down syndrome was detected in 9 cases (8.3%) and one had 46 XX, del (13-q), one had 45, XX, t (13;14) and 2.8% was 46, XX, +21, der (14;21) (q10;q10). The risk of complications of amniocentesis was associated with performing amniocentesis early in pregnancy, and with increased number of attempts. The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic fluid, the decision to terminate the pregnancy was made in 3 (14.3%). Among the 45 cases with abnormal findings suggesting fetal congenital malformation, 16 (35.6%) chose termination of their pregnancy. In conclusion: Public awareness of the risks and difficulties facing a child with chromosomal anomalies or congenital malformations and the effect on their future health and living is of great importance for acceptance of prenatal screening. Prenatal diagnosis may affect the reproductive decision after genetic counseling. It is essential that genetic counseling is noncoercive and nonjudjemental. The couples decision (Even if it is different from the counselor's views) should be respected. Keywords: Genetic counselling, antenatal screening, amniocentesis. Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 131-14

Innovation in the time of SARS-CoV-2: A collaborative journey between NHS clinicians, engineers, academics and industry.

During the pandemic healthcare faced great pressure on the availability of protective equipment. This paper describes the entire novel innovative process of design optimisation, production and deployment of face-visors to NHS frontline workers during SARS-CoV-2 pandemic. The described innovative journey spans collaboration between clinicians and academic colleagues for design to the implementation with industry partners of a face-visor for use in a healthcare setting. It identifies the enablers and barriers to development along with the strategies employed to produce a certified reusable, adjustable, high volume and locally produced face-visor. The article also explores aspects of value, scalability, spread and sustainability all of which are essential features of innovation

Survey of Predatory Coccinellids (Coleoptera: Coccinellidae) in the Chitral District, Pakistan

An extensive survey of predatory Coccinellid beetles (Coleoptera: Coccinellidae) was conducted in the Chitral District, Pakistan, over a period of 7 months (April through October, 2001). A total of 2600 specimens of Coccinellids were collected from 12 different localities having altitudes from 1219.40–2651.63 m. Twelve different species belonging to 9 genera of 3 tribes and 2 sub-families were recorded. Two sub-families, viz, Coccinellinae Latreille, 1807 and Chilocorinae Mulsant, 1846 were identified. The following 8 species belonged to family Coccinellinae Latreille 1807 and tribe Coccinellini Latreille 1807: Coccinella septempunctata Linnaeus, 1758, Hippodamia (Adonia) variegata Goeze, 1777, Calvia punctata (Mulsant, 1846), Adalia bipunctata (Linnaeus, 1758),Adalia tetraspilota (Hope, 1831), Aiolocaria hexaspilota Hope 1851, Macroilleis (Halyzia) hauseri Mader, 1930,Oenopia conglobata Linnaeus, 1758. Only one species namely Halyzia tschitscherini Semenov, 1965 represented tribe Psylloborini of the sub-family Coccinellinae Latreille, 1807. Three species occurred from sub-family Chilocorinae Mulsant 1846 and tribe Chilocorini Mulsant 1846: Chilocorus rubidus Hope, 1831, Chilocorus circumdatus (Gyllenhal, 1808), Priscibrumus uropygialis (Mulsant, 1853). From the aforementioned species 6 were recorded for the first time from Pakistan: Chilocorus circumdatus, Calvia punctata, Adalia bipunctata, Macroilleis (Halyzia) hauseri, Priscibrumus uropygialis, and Oenopia conglobata

Evidence for Pervasive Adaptive Protein Evolution in Wild Mice

The relative contributions of neutral and adaptive substitutions to molecular evolution has been one of the most controversial issues in evolutionary biology for more than 40 years. The analysis of within-species nucleotide polymorphism and between-species divergence data supports a widespread role for adaptive protein evolution in certain taxa. For example, estimates of the proportion of adaptive amino acid substitutions (alpha) are 50% or more in enteric bacteria and Drosophila. In contrast, recent estimates of alpha for hominids have been at most 13%. Here, we estimate alpha for protein sequences of murid rodents based on nucleotide polymorphism data from multiple genes in a population of the house mouse subspecies Mus musculus castaneus, which inhabits the ancestral range of the Mus species complex and nucleotide divergence between M. m. castaneus and M. famulus or the rat. We estimate that 57% of amino acid substitutions in murids have been driven by positive selection. Hominids, therefore, are exceptional in having low apparent levels of adaptive protein evolution. The high frequency of adaptive amino acid substitutions in wild mice is consistent with their large effective population size, leading to effective natural selection at the molecular level. Effective natural selection also manifests itself as a paucity of effectively neutral nonsynonymous mutations in M. m. castaneus compared to humans

PpiA, a Surface PPIase of the Cyclophilin Family in Lactococcus lactis

Background: Protein folding in the envelope is a crucial limiting step of protein export and secretion. In order to better understand this process in Lactococcus lactis, a lactic acid bacterium, genes encoding putative exported folding factors like Peptidyl Prolyl Isomerases (PPIases) were searched for in lactococcal genomes. Results: In L. lactis, a new putative membrane PPIase of the cyclophilin subfamily, PpiA, was identified and characterized. ppiA gene was found to be constitutively expressed under normal and stress (heat shock, H2O2) conditions. Under normal conditions, PpiA protein was synthesized and released from intact cells by an exogenously added protease, showing that it was exposed at the cell surface. No obvious phenotype could be associated to a ppiA mutant strain under several laboratory conditions including stress conditions, except a very low sensitivity to H2O2. Induction of a ppiA copy provided in trans had no effect i) on the thermosensitivity of an mutant strain deficient for the lactococcal surface protease HtrA and ii) on the secretion and stability on four exported proteins (a highly degraded hybrid protein and three heterologous secreted proteins) in an otherwise wild-type strain background. However, a recombinant soluble form of PpiA that had been produced and secreted in L. lactis and purified from a culture supernatant displayed both PPIase and chaperone activities. Conclusions: Although L. lactis PpiA, a protein produced and exposed at the cell surface under normal conditions, displaye