Down’s Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters

Objective

To derive a risk calculation algorithm suitable for use in India when screening for Down’s syndrome using four first-trimester maternal serum markers either alone or with ultrasound nuchal translucency (NT).

Methods

Stored maternal serum samples (??20 °C) from 411 singleton unaffected pregnancies were retrieved and measured for pregnancy-associated plasma protein (PAPP-A), free β-human chorionic gonadotropin (hCG), placental growth factor and α-fetoprotein. Samples were taken at 10–13 weeks’ gestation. Equations were derived to express marker levels in multiples of the gestation-specific normal median, adjusted for maternal weight. Gaussian model parameters were derived and compared with six published non-Indian studies; NT parameters were derived from 27,647 women screened in India. On the basis of the maternal age distribution in 64,473 Indian women screened in 2016–2017, the model was used to predict test performance.

Results

The model predicted a detection rate for a serum-only protocol of 80% for a 5% false-positive rate. Using a 1 in 250 at term Down’s syndrome risk cut-off, the predicted detection rate was 78% and the false-positive rate was 4.1%. When NT was also included, the rates were 95% for 5% and 90% for 1.4%, respectively.

Conclusion

First-trimester screening using four serum markers only can be carried out in India. Performance is expected to be similar to the second-trimester Quad test and will also facilitate early screening for preeclampsia and open spina bifida. A protocol of NT plus the four serum markers enhances the performance compared with NT, PAPP-A and free β-hCG.

     

Social integration of children with epilepsy in rural India

Only a small fraction of people with epilepsy in developing countries has access to medical facilities. Even with effective treatment, their psychosocial needs are often overlooked in the absence of obvious disability. In rural areas, community-based rehabilitation programmes assist in the integration of people with disabilities into employment and the community. However, the functional impairment associated with epilepsy is not well recognised in intervention programmes in developing countries. We report, for the first time, the social activities of children with epilepsy and their peers in rural India. We employed a cross-sectional design using a new age and sex-specific social activity questionnaire. Population screening in the context of a community-based rehabilitation programme identified 88 children with epilepsy and 250 randomly selected controls. A trained interviewer administered the questionnaire to mothers in Bengali. Girls' activities were principally domestic, whilst boys' were mostly outdoors and involved peers. All groups of children with epilepsy had significant social deficits, equally for boys and girls in the age range from 2 to 18 years (p < 0.05). Boys with epilepsy had limited peer group activities, and parents conferred fewer responsibilities to school age and adolescent children compared to controls. The nature and degree of deficits were beyond the constraints imposed by neurological impairment. Our findings in pre-schoolers were consistent with parental attitudes of overprotection found in previous research. We conclude that social integration needs active and early promotion among children with epilepsy. The assessment of remediable risk and protective factors in the family and community is an important practical area for research in community-based rehabilitation.     

Anatomical study of the infraorbital foramen

Detailed knowledge of variations of the infraorbital foramen (IOF) and the establishment of a constant reference point for needle insertion are important for safe and successful regional block and for avoiding iatrogenic injury to the nerve during surgery in the midfacial region. Infraorbital foramina from 133 sides of 67 dry intact adult skulls of undetermined gender were examined for variations in shape, number, location in relation to bony landmarks, and relationship to the maxillary teeth. The angles of needle insertion in the sagittal and Frankfurt planes were determined. The infraorbital foramina were located at an average distance of 6.33 ± 1.39 mm below the infraorbital margin, 25.69 ± 2.37 mm from the median plane, 15.19 ± 1.70 mm from the lateral margin of the piriform aperture, and 28.41 ± 2.82 mm above the maxillary alveolar border. The average angles of needle insertion through the IOF with the sagittal and Frankfurt planes were 21.14° ± 10.10° and 31.79° ± 7.68°, respectively. Multiple foramina were found in 21% of the hemi‐skulls. The foramen was less than 2 mm in size in 23.31% of the hemi‐skulls. The position of the IOF with respect to the maxillary teeth varied from the interval between the canine and first premolar to the first molar, but in half of the specimens it lay in line with the second maxillary premolar tooth. The observations made in this study should be useful for planning infraorbital nerve block or surgery around the IOF. Clin. Anat. 28:753–760, 2015. © 2015 Wiley Periodicals, Inc.     

Rituximab in Steroid Refractory Autoimmune Hemolytic Anemia

Autoimmune hemolytic anemia is rare in children and infants and steroids are the corner stone of therapy. Management of the patients with steroid refractory/dependent disease is difficult .Rituximab is being used in the treatment of a variety of autoimmune diseases including Autoimmune hemolytic anemia (AIHA),especially in adults but there is scarce data regarding the use of this agent in pediatric AIHA patients.The authors report two cases of steroid refractory AIHA, who responded to rituximab with review the literature of its use in pediatrics.     

A randomized comparative study on vaginal administration of acetic acid-moistened versus dry misoprostol for mid-trimester pregnancy termination

Purpose  

Absorption and effectiveness of vaginally administered misoprostol tablets may vary according to the medium in which it is placed. This study was directed to compare the outcomes of vaginal administrations of acetic acid-moistened misoprostol tablets with those of dry tablets for induction of second-trimester abortion.     

Fermentation potential of the gut microbiome: implications for energy homeostasis and weight management

Energy homeostasis is regulated by twin factors, energy intake and energy expenditure. Obesity arises when these two factors are out of balance. Recently, the microflora residing in the human gut has been found to be one of the influential factors disturbing energy balance. Recent interest in this field has led to use of the term "gut microbiome" to describe the genomes of trillions of microbes residing in the gut. Metagenomic studies have shown that the human gut microbiome facilitates fermentation of indigestible carbohydrates to short-chain fatty acids that provide excess energy to the body, thus contributing to the obese phenotype. Alteration in the ratio of Bacteroidetes and Firmicutes drives a change in fermentation patterns that could explain weight gain. Therefore, changes in the gut microbiome (induced by antibiotics or dietary supplements) may be helpful in curbing the obesity pandemic. This review provides information on the expansive role the gut microbiome is believed to play in obesity and other related metabolic disorders.     

Dermoscopy to Detect Signs of Subclinical Nail Involvement in Chronic Plaque Psoriasis: A Study of 68 Patients

Background:

Onychopathies constitute one of the major challenges faced by a dermatologist in terms of its early detection and diagnosis. Utility of dermoscope as a tool for detection is increasing by the day and its use in onychopathies needs to be explored.

Aims:

To study the dermoscopic features of nails in patients of chronic plaque psoriasis.

Materials and Methods:

In a cross-sectional study, a total of 68 patients with chronic plaque psoriasis were recruited. Dermoscopy of nail plate was conducted and were compared with equal number of age and sex matched healthy volunteers.

Results:

Forty-six patients showed dermoscopic findings. Twenty-two patients did not show any dermoscopic findings. Coarse pits (18/46, P < 0.0001), onycholysis (10/46, P < 0.001), oil drop sign (2/46, P = 0.12) and splinter hemorrhages (5/46, P = 0.05) were seen. In addition certain findings of interest were stout, globose, dilated, pink- to red-colored nail bed vessels arranged longitudinally at the onychodermal band surrounded by a prominent halo (9/46, P = 0.01). In contrast, splinter hemorrhages appeared as streaks and were purple in color.

Conclusion:

In a psoriasis patient, dermoscope can be a useful tool to detect early nail involvement in psoriasis and aid in differentiating it from other disorders of nails.