Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN. A genome-wide search for linkage followed by mutational analysis of candidate genes was performed in five of these families. A region in chromosome 11 showed evidence of linkage in four families. The gastric IF (GIF) gene located in this region harbored homozygous nonsense and missense mutations in these four families and in three additional families. The disease in these cases therefore should be classified as hereditary IF deficiency. Clinically, these patients resembled those with typical IGS; radiocobalamin absorption tests had been inconclusive regarding the nature of the defect. In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice.     

What surgical approach has the lowest risk of the lower lid complications in the treatment of orbital floor and periorbital fractures? A frequentist network meta-analysis

Purpose

Evidence on the best surgical approach with the lowest lower lid complications (LLCs) in the treatment of orbital floor (OF) and periorbital fractures (POFs) is limited because of the absence of head-to-head studies. We performed this network meta-analysis (NMA) to compare various surgical approaches in treatment of OFs and POFs, with respect to LLCs.

Routine bilamellar tarsal rotation surgery for trachomatous trichiasis: short-term outcome and factors associated with surgical failure

PURPOSE: To determine risk factors for early failure of the bilamellar tarsal rotation procedure in trachomatous trichiasis. METHODS: This was a prospective study in which the bilamellar tarsal rotation procedure was performed on 638 eyelids in Menofiya governorate in Egypt over a 4-year period. An analysis was performed to determine the incidence of early surgical failure (defined as one or more lashes touching the eyeball) after 8 weeks and to determine the risk factors for these failures. RESULTS: Follow-up data were available on 599 eyes at 8 to 10 weeks after surgery. Considering all eyes, failure (one or more lashes touching the eyeball) was noted in 98 eyes (16.4%). Failure was associated with preoperative corneal staining (RR, 3.27; 95% CI, 2.34 to 4.57), preoperative corneal opacity (RR, 1.64; 95% CI, 1.15 to 2.34), the use of silk sutures (RR, 54.82; 95% CI, 7.72 to 389.4), and the use of 4 or more sutures (RR, 1.24; 95% CI, 1.04 to 1.48). CONCLUSIONS: The finding that specific sutures or needles was associated with early failure of the bilamellar tarsal plate rotation procedure for trachomatous trichiasis was unexpected and deserves further study.     

Efficacy of eight larvicidal botanical extracts from Khaya senegalensis and Daucus carota against Culex annulirostris

The failure to discover a significant new class of insecticides has led many researchers back to biodiscovery studies in the search for new and economically viable alternatives. After a preliminary screening of botanical extracts using descending series of concentrations (1,000, 500, 100, 50, and 5 mg/liter), 8 extracts from 2 potential botanical agents, Khaya senegalensis (Desrousseaux) and Daucus carota L., were tested against 4th instars of Culex annulirostris (Skuse) following the standard World Health Organization insecticide susceptibility methodology. The median lethal concentration (LC50) values for K. senegalensis against Cx. annulirostris using acetone, ethanol, hexane, and methanol extracts were 20.12, 5.1, 5.08, and 7.62 mg/liter, respectively. The LC50 values for D. carota against Cx. annulirostris using acetone, ethanol, hexane, and methanol extracts were 236.00, 36.59, 77.19, and 241.8 mg/liter, respectively. Extracts from K. senegalensis were more potent than those from D. carota against Cx. annulirostris and hexane and ethanol were the best solvents to extract essential oils from both plant species, respectively. In potency, K. senegalensis was similar to azadirachtin, but fractionation and compound isolation of the hexane extract in particular may reveal a potent phytochemical that could be compared to synthetic mosquitocides.     

Neonatal surgery in Africa

The management of neonatal surgical problems continues to pose considerable challenges, particularly in low-resource settings. The burden of neonatal surgical diseases in Africa is not well documented. The characteristics of some neonatal surgical problems are highlighted. Late presentation coupled with poor understanding of the milieu interior of the neonates by incompetent health care providers and poorly equipped hospitals combine to give rise to the unacceptable high morbidity and mortality in most parts of Africa. Proper training of all staff involved in neonatal health care coupled with community awareness must be vigorously pursued by all stakeholders. Various governments throughout the continent of Africa, in conjunction with international donor agencies, must not only provide an adequate budget for health care services and improve infrastructures, but must also deliberately encourage and provide funding for neonatal surgical care and research across the continent. The well-established pediatric surgical training programs, particularly in North and South Africa, should hold the moral responsibility of training all possible numbers of young surgeons from other African countries that do not have any existing pediatric surgical training programs or those countries suffering from remarkable shortage of trained pediatric surgeons.     

Cross-species surveillance of Leptospira in domestic and peri-domestic animals in Mahalla City, Gharbeya Governorate, Egypt

A survey of 179 animals (black rats, dogs, sheep, buffaloes, cattle, donkeys, weasels, and cats) for Leptospira infection was conducted in Mahalla City (Lower Egypt). Blood, urine, and kidney were collected and tested by culture, microscopic agglutination test (MAT), and/or polymerase chain reaction (PCR). Among rats, 26% were positive by PCR, including 7% that were also positive by culture for L. interrogans serovars Grippotyphosa, Pyrogenes, and Icterohaemorrhagiae. L. borpetersenii serovar Polonica was isolated for the first time in Egypt in three rats. MAT titers ≥ 1:800 were observed in 11% of rats and 12% of dogs. L. interrogans serovar Grippotyphosa was detected in one cat. Sheep and donkeys were negative for leptospirosis by all methods. Buffaloes and cattle were seropositive in 20% and 44% of animals, respectively. Data indicate that several pathogenic serovars are circulating in the animals, which may pose exposure risks and account for high rates of acute febrile illness.