Management of Infants with Congenital Adrenal Hyperplasia

Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manageassociated morbidities. The current review focuses on follow-up and management of infants diagnosed with classical CAH pertinent toIndian context. Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy andchildhood. Fludrocortisone is recommended for all infants with classical CAH. All infants should be monitored as per protocol fordisease and treatment related complications. The role of prenatal steroids to pregnant women with previous history of CAH affectedinfant for prevention of virilization of female fetus is controversial.

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguousgenitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to amissed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening forCAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestationalage is also suggested. The protocol also recommends a two-tier protocol of initial immunoassay/time resolved fluoroimmunoassayfollowed by liquid chromatography tandem mass spectrometry for confirmation of screen positive babies, wherever feasible. Routinemolecular and genetic testing is not essential for establishing the diagnosis in all screen positive babies, but has significant utility inprenatal diagnosis and genetic counseling for future pregnancy.

Evolutionary analysis of genus Channa based on karyological and 16S rRNA sequence data

A wide range of diploid number of chromosomes and the body size of Channa congeners are useful combination of characters for studying the factors controlling the body size. In this study, the karyological information was superimposed on the evolutionary tree generated by 16S rRNA mitochondrial gene sequences. Here, the metaphase chromosome complements stained with Giemsa, AgNO3 and CMA3 were prepared from six snakehead murrel fish species collected from northeast India. The diploid chromosome numbers and the fundamental arms of C. aurantimaculata (2n = 52, NF = 98), C. gachua (2n = 56, NF = 84), C. marulius (2n = 44, NF = 58), C. orientalis (2n = 52, NF = 74), C. punctata (2n = 32, NF = 60) and C. striata (2n = 40, NF = 48) were calculated by the analysis of metaphase chromosome complements. Both methods of nucleolar organizer region (NOR) localization, silver nitrate and chromomycin A3, revealed NOR pairs of 1, 2, 3, 1, 4 and 3 in C. aurantimaculata, C. gachua, C. marulius, C. orientalis, C. punctata and C. striata, respectively. The subject species showed primitive type of asymmetrical chromosomes, except the C. punctata. The variation in 2n for C. orientalis (2n = 52, 78) and C. gachua (2n = 52, 78, 104) of a complete haploid set indicates the possibility of either ploidy change in . orientalisC and C. gachua, if we consider 2n = 52 or the Robertsonian rearrangements in different populations of these two species. The chromosome evolution tree was constructed on 16S rRNA ML-phylogenetic tree using ChromEvol 1.3. The analysis of chromosome evolution explained the loss or gain of chromosome, duplications or semiduplications mechanism. For time scaling the chromosomeevolution, the node age of available 16S rRNA gene of Channa species were estimated, which was also used for estimating the time when chromosomal changes occurred in context of geological time-scale.

Effect of Temperature on Production of Endoglucanase and Xylanase from Some Green Manure Fungal Decomposers

Among the various microorganisms reported for their capabilities of cellulases and xylanases production, fungi are the most potent producers. This study reports the production of xylanolytic and cellulolytic enzymes by potential decomposing fungal isolates using a cheap medium containing green manure substrate and chemically defined basal medium under solid-state culture. A number of decomposing fungi were screened for cellulolytic and xylanolytic potential. The enzyme production with purified carboxy methyl cellulose (CMC) and birch wood xylan was studied and found to be promising. Aspergillus niger produced the highest amount of endoglucanase and xylanase viz., 3.635 U mg-1 protein min-1 and 2498.20 U mg-1 protein min-1, respectively at 25ºC. Growth and enzyme production was affected by the alterations in temperature. Highest production of endoglucanse and xylanase were noted at 25ºC and 30ºC.

Morphometric Study of Estimation of Stature from Index Finger Length in Indian Population.

Background: Estimation of stature is basic and major section of Anthropological research which is necessary for unmistakable conformation and is used by medico- legal experts, forensic examiners and Anatomists. Methods: In the present, morphometric, cross sectional study of the measurement of stature from index finger length among the population of India is done. This study consist of 400 subject among them 200 are males and 200 females between the age group of 17-25 year. The subjects are students of Teerthanker Mahaveer Medical College and Research centre. The data was statistically analysed by calculating mean and standard deviation as well as standard error. Regression formula was also derived by calculating the stature and the index and ring finger length. Result: The high value of the regression coefficient shows that the index finger length may clearly predict the body height in both sexes. It is a good predictor for estimation of the height of the males and females subjects. Regression equations are- For male:- Y= 124.26+6.41(RIFL), For female:- Y= 110.16+5.82(RIFL). Conclusion: The finding of the present study shows that the index finger length can be used successfully to predict the height of the human being. Medico-legally it is a considerable parameter which determines the height of subject which is a major step in recognition of a deceased subject.

Electrocardiographic and Echocardiographic Evaluation of Heart in Newly Diagnosed Hypothyroid Patients.

Background: Hypothyroidism is a clinical syndrome resulting from a deficiency of thyroid hormones, which in turn results in a generalized slowing down of metabolic processes. Hypothyroidism affects 2% of adult women and 0.1-0.2% of adult men. Thyroid hormones exert direct cellular effects on almost all tissues of the body. It causes multi-organ dysfunction due to deranged metabolism. Objectives: To study Electrocardiographic and echocardiographic evaluation of heart in newly diagnosed hypothyroid patients. Methods: This study was a conducted as a prospective study carried out from January 2012 to July 2013 at Mediciti Institute of Medical Sciences. The criteria for diagnosis of hypothyroidism was Clinical assessment, Thyroid hormone assay–TSH - >5 μIU/ml, FT4 - < 0.7 ng/dl, FT3 - < 2.4 pg/dl. Investigations like Complete Blood Picture, Complete Urine Examination, Random Blood Sugar, Blood urea, Serum Creatinine, Fasting lipid profile, Chest X Ray, Standard 12 Lead ECG were done. Results: On systemic examination, Cardiomegaly and diminished heart sound was found in 13.3% and 9.99% patients. Normal ECG is found in 36.66% of patients before treatment and 66.66 % after treatment. Bradycardia is most common finding seen in 6 patients counting for 20%, followed by low voltage complexes and ST changes in 16.66% patients respectively before treatment. Echo findings are normal in 43.33% cases before treatment and 66.66% after treatment. Pericardial effusion and Diastolic dysfunction are the common findings seen in 8 cases each accounting to 26.66% cases, which reduced to 13.3% and 9.99% respectively after management. Systolic dysfunction was found in 9.99% of patients after treatment. Conclusion: Hypothyroid state, which has significant impact on cardiac structure/function associated with increased CVS morbidity and mortality is reversible with treatment.

Novel Mutations in a Patient with Triple A Syndrome.

Background: Triple A syndrome (Allgrove syndrome), a rare autosomal recessive disorder, is characterized by adrenal insufficiency, achalasia cardia and alacrimia. It is caused by mutations in AAAS gene which encodes a protein called ALADIN. Case characteristics: 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation. Investigations confirmed achalasia cardia and adrenal insufficiency. Sequencing of AAAS gene revealed two novel mutations in compound heterozygous state (c.1101delG/ c.1310_1311delCT). Outcome: Patient was managed with hydrocortisone and artificial tears. Message: Sequencing analysis should be done to confirm the diagnosis of clinically suspected Triple A syndrome.

Assessment of pollution of river Ganges by tannery effluents using genotoxicity biomarkers in murrel fish, Channa punctatus (Bloch).

River pollution due to rapid industrialization and anthropogenic activities adversely affects the aquatic organisms, especially fish. Here, we assessed the genotoxicity, mutagenicity and bioaccumulative aspects of tannery effluents in freshwater murrel, Channa punctatus, an inhabitant of river Gange. Test specimens were collected from three different polluted sites of the river within and nearby Kanpur area during different seasons and blood samples of these specimens were processed for comet assay and micronucleus test as genotoxicity biomarkers. A significantly (P <0.05) higher micronuclei induction, nuclear abnormalities and % tail DNA was observed in the specimens collected from the polluted sites. Bioaccumulation studies in the muscle (1.202 µg/g) and gill tissues (<0.300 µg/g) of the specimens revealed the concentration of chromium (core component of tanning industry) above the maximum permissible limits as prescribed by World Health Organization (WHO). The findings of the present analysis indicated contamination of river Ganges with tannery effluents which induce genotoxicity in fish with seasonal variation.

Isolated abscess in superior rectus muscle in a child.

Pyomyositis is a primary bacterial infection of striated muscles nearly always caused by Staphylococcus aureus. Development of the intramuscular abscess involving the extra‑ocular muscles (EOMs) remains an extremely rare process. We herein present a case of isolated EOM pyomyositis involving superior rectus muscle in a 2‑year male child who was referred with complaints of swelling in left eye (LE) and inability to open LE since last 1‑month. Orbital computed tomography (CT) scan showed a well‑defined, hypo‑dense, peripheral rim‑enhancing lesion in relation to left superior rectus muscle suggestive of left superior rectus abscess. The abscess was drained through skin approach. We concluded that pyomyositis of EOM should be considered in any patient presenting with acute onset of orbital inflammation and characteristic CT or magnetic resonance imaging features. Management consists of incision and drainage coupled with antibiotic therapy.

Utility of First Trimester Anomaly Scan in Screening of Congenital Abnormalities in Low and High Risk Pregnancies.

The primary objective of the present study is to assess the feasibility and value of first trimester anomaly scan in both high risk and low risk pregnant patients. All high risk and low risk patients with live fetus and 11- to 14-week gestation were enrolled in study after informed and written consent. All patients were screened for congenital anomalies by 11-14 week ultrasound scan (first trimester anomaly scan) as part of routine prenatal care. Second trimester scan was conducted at 18 to 22 weeks gestation. The results of the first trimester anatomic survey were correlated with second trimester target scan to evaluate value of first trimester scan for early detection of anomalies. Overall prevalence of congenital anomalies in study population was 2.6%. Out of these 64.4% were detected by first trimester anomaly scan, while another 35.6% were detected by mid gestation scan. Detailed first trimester anomaly scan and first trimester fetal echocardiography should be performed to detect the fetal anomalies early.

Relationship Between the Facial Artery and Sub Mandibular Salivary Gland.

Knowledge of relationship between the facial artery and submandibular salivary gland is essential for the surgeon operating in the submandibular region. This study has been under taken to have the knowledge of this relationship. Submandibular region has been dissected on 20 male cadavers in the Department of Anatomy, Sree Narayana Institute of Medical Sciences, Kerala. The course of the facial artery and its relationship to submandibular salivary gland has been followed carefully. The standard description of ascent of the facial artery along the entire length of posterior border of the submandibular salivary gland was seen in 15 out of the 20 sides studied. In 4 out of 20 sides dissected the facial artery reached only the upper part of the posterior border of the gland. The facial artery arose high on the external carotid artery near the angle of the mandible in one specimen. It reached the gland only at its postero-superior angle, pierced through the gland and emerged on the upper part of the lateral surface of the gland. Our study shows that only 1/5 of instances facial artery courses along the posterior border of the gland. In 4/5 of instances it reaches only the upper part of the posterior border.

Unilateral prurigo nodularis: a rare presentation.

Prurigo Nodularis (PN) is a rare chronic skin disorder of unknown etiology. Here we are describing a case of 14 year old girl having prurigo nodularis with no other systemic illness.

Complex regional pain syndrome type 1 and scurvy.

A 5 year old female developed features of complex regional pain syndrome (CRPS) i.e excessive pain to touch, decreased sweating and edema of left ankle 2 years after fracture of left tibia. Gum bleeding, petechiae and pseudoparalysis and suggestive radiograph characterized scurvy. Hyperesthesia improved and child walked with support following administration of vitamin C.

A non-invasive technique for rapid extraction of DNA from fish scales.

DNA markers are being increasingly used in studies related to population genetics and conservation biology of endangered species. DNA isolation for such studies requires a source of biological material that is easy to collect, non-bulky and reliable. Further, the sampling strategies based on non-invasive procedures are desirable, especially for the endangered fish species. In view of above, a rapid DNA extraction method from fish scales has been developed with the use of a modified lysis buffer that require about 2 hr duration. This methodology is non-invasive, less expensive and reproducible with high efficiency of DNA recovery. The DNA extracted by this technique, have been found suitable for performing restriction enzyme digestion and PCR amplification. Therefore, the present DNA extraction procedure can be used as an alternative technique in population genetic studies pertaining to endangered fish species. The technique was also found equally effective for DNA isolation from fresh, dried and ethanol preserved scales.