Annals of Biomedical Research https://arklib.com/index.php/abr <p>Annals of biomedical research is an online, peer-reviewed, open access journal. This publishes original articles, reviews, clinical studies comprehensively covering life sciences and Medicine.</p> arklib en-US Annals of Biomedical Research Biochemical Diagnosis of Wilson’s Disease with the Radio Copper Test https://arklib.com/index.php/abr/article/view/61 <p><strong>Background</strong>: Wilson’s disease, an autosomal recessive disorder of the hepatic copper transporter ATP7B, has variable initial symptoms which usually first appear between the ages of 6 and 45. Rapid confirmation of the tentative diagnosis followed by immediate treatment is crucial for the prognosis.</p> <p>Molecular genetic testing is now established and has replaced the intravenous radio copper test (RCT). To date, more than 500 mutations distributed on 21 exons of ATP7B have been identified; this genetic heterogeneity can lead to difficulties in interpretation.</p> <p><strong>Aim</strong>: To describe the use of biochemical and enzymatic studies for the interpretation of genetic test results of patients with suspected Wilson’s disease.</p> <p><strong>Material / Method</strong>: From 1974 until January 2011, Wilson’s disease was diagnosed at the Leipzig University using the intravenous RCT. The diagnosis was later confirmed in all patients by molecular genetic testing. This proved the reliability of this biochemical nuclear medical method. The high degree of sensitivity is characterised by the absence of false negative cases.</p> <p><strong>Results</strong>: The RCT records ATP7B functional loss, which occurs only in pathogenic mutations in a homozygous and compound heterozygous configuration. It identifies the metabolic focal point of the disorder when copper is incorporated into apoceruloplasmin. Non-pathogenic mutations are selected automatically.</p> <p><strong>Discussion</strong>: Due to genetic heterogeneity, reliable biochemical methods should still be available in cases of doubt despite the progress in genetic diagnostics. The intravenous RCT can be used for this in the case of Wilson’s disease.</p> Prof. Dr. med. habil. Wieland Hermann Copyright (c) 2020 Annals of Biomedical Research 2020-12-19 2020-12-19 1 1 Congenital CMV Retinitis https://arklib.com/index.php/abr/article/view/64 <p>Bs/O B, MCDA twins born at preterm gestation (30 weeks) to Gravida 3 mother with h/o one spontaneous abortion and one intra uterine death at 8 months of GA (G3 P1 A1 D1) on 1/9/20 by LSCS in view of abnormal Doppler study. Antenatally steroids and magnesium sulphate were given.</p> Vishnuvardhan Reddy Meedimale Copyright (c) 2021 2021-08-17 2021-08-17 1 1 Giant Duodenal Perforation: Review of Various Techniques https://arklib.com/index.php/abr/article/view/62 <p><strong>Background</strong>: Very few data exist regarding the incidence, definition and treatment of Large Duodenal Perforations (LDP). Duodenal perforation represents a rare but potentially life-threatening condition. The mortality rate ranges from 8% to 25%.</p> <p><strong>Aim</strong>: The aim of this paper is to report useful aspects in the practice about treatment options in LPD.</p> <p><strong>Methods</strong>: From Cellan-Jones in 1929 to Graham in 1937 a number of surgical techniques have developed from closure small defect to complex techniques to close large defect using other surgical options such as partial gastrectomy, proximal gastrojejunostomy, T-Tube duodenostomy, jejunal serosal patch, exclude biliary tree with a T-Tube plus gastrojejunostomy or plus partial gastrectomy.</p> <p><strong>Results</strong>: In the literature research, we have difficult to find a definition of large or giant duodenal perforation. Following some authors large giant seems to be &gt;2 cm. Most of the duodenal ulcer perforations are less than 1 cm and the technical option as closure the defect associated by omentopexy as Graham techniques or pedicle omentopexy as Cellan-Jones technique, is the best choice. Large and giant perforations are considered at higher risk of leak with the use of omental patch. In such types, surgeon must think to search other technical options such as partial gastrectomy plus Billroth II anastomosis, gastrostomy, lateral duodenostomy, T-Tube duodenostomy and feeding jejunostomy, biliary tree disconnection with T-Tube plus partial gastrectomy.</p> <p><strong>Conclusion</strong>: The aim of this paper is to report useful aspects in the practice about treatment options in LPD to obtain low morbidity and mortality rate. Literature results seem to advise the use of suture plus omentopexy Cellan-Jones or Graham techniques, in small and large sized perforations mx 2 or 2.5 cm. For large/giant duodenal perforation from 2.5 cm or over 3 cm various technical options are performed.</p> Danilo Coco MD Copyright (c) 2021 2021-03-08 2021-03-08 1 1 Congenital Lobar Emphysema https://arklib.com/index.php/abr/article/view/65 <p>B/O MR, A 3.198kgs female baby was delivered at Term (37weeks) by a 25yrs old (Gravida 4, Abortions 2 and 1 ectopic pregnancy) woman by Caesarean section. LSCS was indicated by maternal request. Pregnancy was uneventful and no significant family history for any abnormality. NT scans and level 2 scans and growth scans were normal.</p> Vishnuvardhan Reddy Meedimale Copyright (c) 2021 2021-08-17 2021-08-17 1 1 Intracorporeal Versus Extracorporeal Ileocolic Anastomosis in Laparoscopic Right Hemicolectomy: Leakage Rate https://arklib.com/index.php/abr/article/view/63 <p>Colorectal Carcinoma is among the common types of cancer that affect people in the western countries, and the incidence approximated at 1.36 million cases globally in 2012 .Right hemicolectomy for the right-side colonic cancer is a procedure that is commonly conducted . The study offered a useful comparison of the discharge rate between the two approaches for anastomosis in laparoscopic right hemicolectomy.</p> Danilo Coco MD Copyright (c) 2021 2021-03-08 2021-03-08 1 1 Necrotising Enterocolitis https://arklib.com/index.php/abr/article/view/66 <p>B/o A R, a male baby born to a G2A1 30 yr old mother at 34+2 weeks of gestation by emergency Caesarean section in view of doppler abnormality on 06/02/2020 at 11:35 am. TIFFA was normal.</p> Vishnuvardhan Reddy Meedimale Copyright (c) 2021 2021-08-17 2021-08-17 1 1 Tracheoesophageal fistula https://arklib.com/index.php/abr/article/view/67 <p>B/o S, A preterm, 30+3week, 1.6 kg, male baby born to primi mother via Em LSCS i/v/o polyhydramnios with preterm labour. NT scan and level 2 scans were normal. There were no abnormalities on external physical examination and APGAR score was 8 at 1‘ and 9 at 5‘.</p> Vishnuvardhan Reddy Meedimale Copyright (c) 2021 2021-08-17 2021-08-17 1 1