McKusik Kaufman syndrome.

A 12-years-old male child presented with polydactyly and syndactyly of hands, hypospadias, AND undescended testes. He was a known case of Tetrology of Fallot. One important differential in our case was Bardet-Biedl syndrome, but it was ruled out due to lack of evidence of central obesity, mental retardation and retinitis pigmentosa. At this time, there is no molecular testing available to distinguish these two syndromes.

Bedside and laboratory diagnostic testing in myasthenia.

Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised autoimmune or genetic and neurophysiological basis. We reviewed the literature from the last 20 years assessing the utility of various neurophysiological, immunological, provocative and genetic tests in MG and CMS. Diagnostic sensitivity of repetitive nerve stimulation test ranges between 14 and 94% and specificity between 73 and 100%; sensitivity of single-fibre EMG (SFEMG) test ranges between 64 and 100% and specificity between 22 and 100%; anti-acetylcholine receptor (AChR) antibody sensitivity ranges from 13 to 97% and specificity ranges from 95 to 100%. Overall, SFEMG has the highest sensitivity while positive anti-AChR antibodies have the highest specificity. Newer testing strategies that have been investigated over the last couple of decades include ocular vestibular-evoked myogenic potentials, otoacoustic emissions and disease-specific circulating miRNAs in serum for autoimmune myasthenia, as well as next-generation sequencing for genetic testing of CMS. While there has been significant progress in developing newer testing strategies for diagnosing MG and CMS over the last couple of decades, more research is needed to assess the utility of these newer tools regarding their sensitivity and specificity.

Aetiological factors of chronic liver disease in children.

BACKGROUND: Chronicity of liver disease is determined either by duration of liver disease or by evidence of either severe liver disease or physical stigmata of chronic liver disease. Chronic liver disease may be caused commonly by persistent viral infections, metabolic diseases, drugs, autoimmune hepatitis, or unknown factors. The objective of this study was to find out the aetiology of chronic liver disease (CLD) in children. METHODOLOGY: It was a descriptive, prospective study which used a structured proforma designed to collect data of cases of CLD from both indoor and outdoor Paediatrics units of Fauji Foundation Hospital, Rawalpindi, and Children Hospital, Pakistan Institute of Medical Sciences, Islamabad. All children under 12 years having either clinical or biochemical evidence of liver disease and/or elevated liver enzymes for more than 3 months were included in this study. RESULTS: Sixty cases of CLD were enrolled from indoor and outdoor units from January 2010 to July 2011. Thirty-nine (65%) cases were male and 21 (35%) were female. Eleven children were less than 1 year, 18 were 1-5 years old and 31 were 5-12 years of age. Viral hepatitis was the most common cause found in 22 (36.7%) cases. Out of these 22 patients with viral aetiology 19 (31.66%) patients had Hepatitis C and 3 (5%) had Hepatitis B. Glycogen storage disease was seen in 8.3% cases, and biliary atresia and Wilson disease in 6.7% each. Other less commonly found cases were autoimmune hepatitis, TORCH infections, hepatoma and drug induced hepatitis (1.7% each). Cause couldn't be established in 35% cases which remained idiopathic. CONCLUSION: Viral hepatitis is the leading cause of chronic liver disease in children, with the highest incidence of chronic Hepatitis C followed by metabolic disorders (glycogen storage disease and Wilson disease) and biliary atresia. Chronic viral hepatitis was most prevalent between 11 months to 12 years of age. Wilson disease was common in 3-7 years age group, and Biliary atresia in 4-7 months age group. Glycogen storage disease was prevalent between 5 months to 3 years.

Efficacy And Tolerability Of Oral Iron Chelator, Deferasirox.

BACKGROUND: Thalassemia major is the severe form of ß thalassemia characterized by severe anaemia, hepatosplenomegaly and facioskeletal changes due to increased haemolysis of defective red blood cells. In iron overload states, high levels of iron exceed the iron-carrying capacity of transferrin within the plasma, leading to the formation of nontransferrin-bound iron form. These nontransferrin-bound iron forms can be taken up into cells, including liver, heart, and endocrine cells leading to organ damage. To prevent complications associated with hemosiderosis, iron chelation therapy remains one of the main objectives of clinical management of the patients affected by Thalassemia Major. METHODS: Thirty-seven patients were enrolled using non randomized convenience sampling technique after the written consent from patients. Patients age 2-30 years were enrolled in this study. Serum Ferritin, ALT, Serum Creatinine were checked at the start of the study, 3 months, 6months and then at the end of the study, i.e., at 9 months of the commencement of the study. They were also assessed for other side effects pertaining to oral tolerability of the drug like vomiting, nausea, GI upset, diarrhoea, urinary complaints or any other subjective complaint. RESULTS: Of the 37 patients, 20 were male (54.1%) and 17 were female (45.9%). Mean age of the patients was 10.2 years (Min. 3 years, Max 21 years). The average serum Ferritin at baseline was noted as 3440 which increased after a period of 3 months, 6 months and 9 months with average of 3359, 3677 and 4394 respectively. After the period of 9 months largest 95% confidence interval of serum Ferritin levels was observed in the range of 3420.17 to 5368.63. In our study, 17 patients required alternative chelation (46%). These patients needed IV Deferioxamine because of the rising trend of Serum Ferritin after the study. CONCLUSIONS: From the results of our study, we infer that oral Deferasirox is not an effective iron chelator. If the patients are taking oral deferasirox, their Serum Ferritin should be checked 3 monthlies. The drug is effective only in maintaining Serum Ferritin levels with levels less than 1500ng/ml. Intravenous Deferioxamine still should be preferred over oral iron chelators for effective control of iron overload and its complications.

Emerging Antimicrobial Resistance in Neonatal Sepsis.

OBJECTIVE: To determine the frequency and antimicrobial sensitivity pattern of microbial agents causing neonatal sepsis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Neonatal ICU, Fauji Foundation Hospital, Rawalpindi; Foundation University, Islabambad, from May 2017 to April 2019. METHODOLOGY: Data of all neonates admitted with sepsis during study period was retrieved from computer database. Age at admission, gender, duration of hospital stay and culture reports were recorded. Culture positive patients were further analysed regarding their antibiotic sensitivity. RESULTS: A total of 1,070 neonates, male:female = 1.36:1, mostly newborn, were included in the study. Total mortality was 182 (17%). Blood culture was positive in 79 (7.4%). Gram positive organisms were identified in 37 (46.8%) Staphylococci in 29 (36.7%), Enterococci 7 (8.9%), Corynebacterium species in 1 (1.3%). Gram negative were isolated in 42 (53.2%) Acinetobacter Baumanni in 14 (17.7%), Klebsiella in 12 (15.2%), Enterobacter spp. In 7 (8.8%), E.coli in 5 (6.3%), Pseudomonas in 2 (2.5%) and Proteus in 1 (1.3%) and Serratia in 1 (1.3%) each. Sensitivity pattern of Gram positive organisms was: vancomycin 30/37 (81.1%), ciprofloxacin 13/37 (35.1%) and Gentimicin 12/37 (32.4%). Gram negative organisms sensitivity pattern was: meropenem 12/42 (28.6%), chloramphenical 10/42 (23.8%), gentimicin 6/42 (14.3%), ciprofloxacin 5/42 (11.9%). Highly resistant strains of Klebsiella (13/14) and Acinitobacter (5/12) were sensitive to colomycin only. CONCLUSION: Common organisms responsible for neonatal sepsis were Styphylococci, Acinitobacter, Klebsiella and E.Coli. Gram positive organisms showed sensitivity to vancomycin and gentamicin. Gram negative organisms were highly sensitive to colomycin. Key Words: Neonatolgy, Neonatal sepsis, Antimicrobial sensitivity, Neonatal mortality.

Leukocyte adhesion defect.

Leukocyte adhesion defect (LAD) is a rare, autosomal recessive primary immunodeficiency disorder of phagocytes, in which there is defective aggregation at the site of infection due to the absence of surface integrins. Diagnosis is based primarily on flowcytometric analysis of neutrophils for the surface expression of CD11, CD18 and CD15s. We describe here a case of a 7-months-old boy who presented with a characteristic history of recurrent infections, marked leukocytosis and delayed separation of umbilical cord. The diagnosis was established by demonstration of the absence of integrins on the surface of patient's neutrophils by flowcytometric analysis.