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1.  Dyskeratosis Congenita Caused by a Novel TERT Point Mutation in Siblings With Pancytopenia and Exudative Retinopathy 
Pediatric blood & cancer  2014;61(12):2302-2304.
Two siblings presenting with exudative retinopathy, thrombocytopenia, and macrocytosis were found to have markedly shortened telomeres and a previously unreported inherited mutation in TERT, c.2603A>G. Revesz syndrome, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, intracranial calcifications, and neurocognitive impairment. As our patients manifested neither intracranial calcification nor significant neurocognitive impairment, we conclude that the c.2603A>G TERT mutation may define a subtype of DC manifesting first as exudative retinopathy without other signs of DC. Children with exudative retinopathy should be periodically screened for macrocytosis and cytopenias to evaluate for underlying DC.
doi:10.1002/pbc.25161
PMCID: PMC4205177  PMID: 25067791
bone marrow failure; dyskeratosis congenita; retinopathy; telomerase
2.  A cross-sectional survey of essential surgical capacity in Somalia 
BMJ Open  2014;4(5):e004360.
Objective
To assess life-saving and disability-preventing surgical services (including emergency, trauma, obstetrics, anaesthesia) of health facilities in Somalia and to assist in the planning of strategies for strengthening surgical care systems.
Design
Cross-sectional survey.
Setting
Health facilities in all 3 administrative zones of Somalia; northwest Somalia (NWS), known as Somaliland; northeast Somalia (NES), known as Puntland; and south/central Somalia (SCS).
Participants
14 health facilities.
Measures
The WHO Tool for Situational Analysis to Assess Emergency and Essential Surgical Care was employed to capture a health facility's capacity to deliver surgical and anaesthesia services by investigating four categories of data: infrastructure, human resources, interventions available and equipment.
Results
The 14 facilities surveyed in Somalia represent 10 of the 18 districts throughout the country. The facilities serve an average patient population of 331 250 people, and 12 of the 14 identify as hospitals. While major surgical procedures were provided at many facilities (caesarean section, laparotomy, appendicectomy, etc), only 22% had fully available oxygen access, 50% fully available electricity and less than 30% had any management guidelines for emergency and surgical care. Furthermore, only 36% were able to provide general anaesthesia inhalation due to lack of skills, supplies and equipment. Basic supplies for airway management and the prevention of infection transmission were severely lacking in most facilities.
Conclusions
According to the results of the WHO Tool for Situational Analysis to Assess Emergency and Essential Surgical Care survey, there exist significant gaps in the capacity of emergency and essential surgical services in Somalia including inadequacies in essential equipment, service provision and infrastructure. The information provided by the WHO tool can serve as a basis for evidence-based decisions on country-level policy regarding the allocation of resources and provision of emergency and essential surgical services.
doi:10.1136/bmjopen-2013-004360
PMCID: PMC4024602  PMID: 24812189
ANAESTHETICS; MEDICAL EDUCATION & TRAINING; SURGERY; WOUND MANAGEMENT
3.  Acceptability and intended usage preferences for six HIV testing options among internet-using men who have sex with men 
SpringerPlus  2014;3:109.
Background
Men who have sex with men (MSM) continue to be disproportionately impacted by the Human Immunodeficiency Virus (HIV) epidemic in the United States (US). Testing for HIV is the cornerstone of comprehensive prevention efforts and the gateway to early engagement of infected individuals in medical care. We sought to determine attitudes towards six different HIV testing modalities presented collectively to internet-using MSM and identify which options rank higher than others in terms of intended usage preference.
Methods
Between October and November 2012, we surveyed 973 HIV-negative or -unknown status MSM and assessed their acceptability of each of the following services hypothetically offered free of charge: Testing at a physician’s office; Individual voluntary counseling and testing (VCT); Couples’ HIV counseling and testing (CHCT); Expedited/express testing; Rapid home self-testing using an oral fluid test; Home dried blood spot (DBS) specimen self-collection for laboratory testing. Kruskal-Wallis tests were used to determine whether the stated likelihood of using each of these modalities differed by selected respondent characteristics. Men were also asked to rank these options in order of intended usage preference, and consensual rankings were determined using the modified Borda count (MBC) method.
Results
Most participants reported being extremely likely or somewhat likely to use all HIV testing modalities except DBS self-collection for laboratory testing. Younger MSM indicated greater acceptability for expedited/express testing (P < 0.001), and MSM with lower educational levels reported being more likely to use CHCT (P < 0.001). Non-Hispanic black MSM indicated lower acceptability for VCT (P < 0.001). Rapid home self-testing using an oral fluid test and testing at a physician’s office were the two most preferred options across all demographic and behavioral strata.
Conclusions
Novel approaches to increase the frequency of HIV testing among US MSM are urgently needed. Combination testing packages could enable high risk MSM in putting together annual testing strategies personalized to their circumstances, and warrant due consideration as an element of combination HIV prevention packages.
doi:10.1186/2193-1801-3-109
PMCID: PMC3942559  PMID: 24600551
HIV testing preferences; Internet-using men who have sex with men; Combination prevention approaches; Rapid home HIV self-testing
4.  Bilateral cystic nephroma with pleuropulmonary blastoma 
BMJ Case Reports  2011;2011:bcr0520114171.
Cystic nephroma is a rare benign renal neoplasm that is purely cystic and is lined by an epithelium. Bilateral cystic nephromas are even rarer with only a handful cases reported in the literature. A case of a 2-year-old male child who presented with bilateral renal cystic masses later diagnosed as cystic nephromas is presented here. Ultrasound, CT scan and histopathological investigations aided in arriving at the correct diagnosis. The most concerning feature was the presence of a fluid filled cystic mass in the lungs, most probably a pleuropulmonary blastoma which is a rare malignant neoplasm known to be associated with bilateral cystic nephromas. The most common presenting symptoms of cystic nephroma are painless abdominal mass, abdominal or flank pain and haematuria. These tumours usually follow a benign course and nephrectomy alone is curative. A close surveillance of such patients is recommended because of elevated risk of other tumours.
doi:10.1136/bcr.05.2011.4171
PMCID: PMC3171057  PMID: 22688934
5.  Falciparum malaria masquerading as appendicitis 
BMJ Case Reports  2011;2011:bcr0120113742.
The incidence of falciparum malaria is very high in India. Falciparum malaria is a multiorgan disease which can present with extremely varied presentations. The severity of the disease and difficulty in its diagnosis require a keen sense of suspicion on the part of the treating physician to diagnose it. Here is an unusual case of falciparum malaria presenting as acute appendicitis. This case did not respond to artemether therapy and that also points towards drug resistance emerging in malaria. The child was operated upon and appendix was found to be inflamed. After a tumultuous postoperative course with symptoms suggestive of acute renal failure, a diagnosis of falciparum malaria was made and quinine started. Recovery was uneventful thereafter.
doi:10.1136/bcr.01.2011.3742
PMCID: PMC3063271  PMID: 22701067
6.  Sub acute sclerosing pan encephalitis despite adequate vaccination 
The Australasian Medical Journal  2012;5(7):359-361.
Sub acute sclerosing pan encephalitis (SSPE) is a rare neurodegenerative disorder related to a persistent and aberrant measles virus infection. It is associated with poor prognosis and high mortality. We report a case of a seven- year-old boy who manifested the disease despite proper vaccination and with no documented past history of measles. The case is being reported for its atypical presentation, rarity and its possibility of occurrence in young vaccinated subjects, possibly due to undocumented pre-vaccination measles infection.
doi:10.4066/AMJ.2012.1262
PMCID: PMC3413002  PMID: 22905063
Subacute sclerosing pan encephalitis; measles; wild type virus; vaccine
7.  Intraperitoneal Rupture of Hepatic Hydatid Cyst Following Blunt Abdominal Trauma 
Peritonitis due to rupture of liver hydatid cyst secondary to blunt abdominal trauma can present with fatal consequences. Timely diagnosis and appropriate surgical management can be life saving. We report a case of ruptured liver hydatid cyst in the peritoneal cavity following trauma and its successful operative management in a preadolescent previously asymptomatic boy. Importance of detailed physical examination and early diagnosis by using appropriate radiological investigations is highlighted.
PMCID: PMC3418044  PMID: 22953304
Hepatic hydatid cyst;  Peritonitis;  Trauma
8.  Willingness to take a Free Anonymous Home HIV Test and Associated Factors among Internet-using Men who have Sex with Men 
Objectives
Online HIV prevention studies have been limited in their ability to obtain biological specimens to measure study outcomes. We describe the factors associated with willingness of MSM to take a free anonymous home HIV test, and the self-identified barriers to home testing as part of an online prevention study.
Methods
Between March-April 2009 we recruited 6163 internet-using self-reported HIV negative MSM, who indicated their willingness to test for HIV infection using a commercially available home collection kit when offered hypothetically no incentive, $10, $25 or $50.
Results
3833 (62%) men reported being very likely and 1236 (20%) men reported being somewhat likely to take a home HIV test offered as part of an online HIV prevention study. When compared to men who were not offered any hypothetical incentive, the odds of being willing to test at home were approximately twice as great for men offered hypothetically $10 (odds ratio (OR), 1.8; 95% confidence interval (CI), 1.5–2.2), $25 (OR, 1.8; CI, 1.5–2.2) or $50 (OR, 2.1; CI, 1.8–2.6). Black MSM (OR, 1.3; CI, 1.1–1.7), men who had unprotected anal intercourse in the past 12 months (OR, 1.3; CI, 1.1–1.5), and men who were unaware of their HIV status (OR, 1.2; CI, 1.0–1.4) had increased odds of being willing to test at home.
Conclusions
Home testing offered as part of online HIV prevention research is acceptable, and future research and interventions should focus on addressing self-identified barriers faced by MSM to testing using home collection kits.
doi:10.1177/1545109711404946
PMCID: PMC3237754  PMID: 21527425
Internet-using MSM; Home HIV Testing; Online HIV Prevention

Results 1-8 (8)