Knowledge and Awareness of Rare Diseases Among Healthcare Professionals in the Kingdom of Bahrain.

Aim  Recent studies highlighted that lack of knowledge on rare diseases is a problem that requires attention. This study aims to assess healthcare professionals' general awareness and knowledge of rare diseases in a tertiary hospital in the Kingdom of Bahrain. Method  The study employed a cross-sectional design, utilizing a survey questionnaire derived from the most recent literature. The survey encompassed socio-demographic factors and quiz-based questions that were previously created by Domaradzi and Walkowiak to assess knowledge and awareness of rare diseases. To ensure convenience and accessibility, the survey was made available in both Arabic and English languages. Results  Of a total of 333 responses, 25.2% were physicians, 53.8% were nurses, and 21.0% were allied health personnel. The majority of participants (87.4%) were aware of and had heard the term "rare diseases" prior to this survey. Participants were able to recognize what age group is frequently affected by rare diseases (p=0.023) and what the common cause of rare diseases worldwide is (p<0.001). Overall scores showed that only four participants answered all questions correctly, testing their knowledge of rare diseases. There was a weak correlation between self-declared knowledge and the overall score achieved (r=0.190; p<0.001), which indicates that the population's self-declared knowledge did not portray their actual knowledge of rare diseases.  Conclusion  This study highlights the need for improved knowledge of rare diseases among healthcare professionals, which aligns with the global knowledge landscape. To bridge the knowledge gap, we recommend action plans to ensure that healthcare professionals have rich knowledge of rare diseases and further improve patient care. Additionally, enhancing advocacy efforts is crucial to ensure optimal local and global patient care services.

Axial T2-DRIVE MRI myelography is highly accurate in diagnosing preganglionic traumatic brachial plexus injuries: why pseudomeningoceles should not be used as a primary diagnostic sign.

AIM: To evaluate the accuracy of brachial plexus magnetic resonance imaging (MRI) utilising the three-dimensional (3D)-T2-turbo spin echo (TSE) with 90° flip-back pulse ("DRIVE") myelography in detecting nerve root avulsions in patients with traumatic brachial plexus injuries. MATERIALS AND METHODS: A prospective study of 24 patients planned for brachial plexus reconstructive surgery following trauma from April 2019 to October 2021. Preoperative 1.5 T MRI of the brachial plexus was performed utilising axial T2-DRIVE, looking for signs of avulsions (absent dural rootlets, pauci-rootlet appearance and thickened rootlets; the presence of pseudomeningoceles was noted only as an ancillary sign). Comparison against the reference standard of extra-dural brachial plexus exploration was performed. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated. RESULTS: Eighteen patients had at least one root avulsion at surgery, five showed isolated post-ganglionic injuries, and one had normal brachial plexus exploration. Thirty-nine avulsed roots were found at surgery (out of 108 explored in 24 patients). Preoperative MRI identified the specific avulsed roots accurately in each patient. Two false-positive diagnoses of C5 and C6 avulsions were made in one patient. On MRI, absence of the rootlets was seen in 73.2% (n=30) of avulsions, pauci-rootlet appearance in 24.4% (n=10) and thickening of the rootlets in 2.4% (n=1). Pseudomeningoceles were found only in 68.3% (n=28) of avulsions. The overall sensitivity, specificity, PPV, NPV, and accuracy of MRI were 100%, 97.1%, 95.1%, 100% and 98.1%, respectively. CONCLUSION: 3D-T2-DRIVE is highly accurate in evaluating pre-ganglionic traumatic brachial plexus injuries. Pseudomeningoceles can be considered an ancillary feature of avulsion given the clarity of rootlet visualisation by this sequence.

Batwing mammoplasty: a safe oncoplastic technique for breast conservation in breast cancer patients with gigantomastia.

BACKGROUND: Surgical management of breast cancer with gigantomastia can be challenging when planning breast conservation, as major breast reduction is required. Complex oncoplastic procedures can carry an additional surgical risk in this situation. We suggest batwing mammoplasty as a simple and safe oncoplastic procedure for those patients. MATERIALS AND METHODS: Fourteen patients with gigantomastia diagnosed with breast cancer were included in this prospective cohort study. All underwent batwing mammoplasty and contralateral symmetrisation procedure between May 2016 and June 2018. Patient satisfaction assessed by the Breast-Q questionnaire. RESULTS: All patients had a body mass index above 30kg/m2 with a mean of 36.7kg/m2 (range 31.6-44.9kg/m2). The mean distance from midclavicular point to nipple was 42cm (range 38-50cm). The mean operative time was 83 minutes for procedures done by a single surgeon. Mean specimen weight was 1.2kg (ranging from 1.035-1.63kg). Postoperative complications occurred in 14.2% of patients. Nipple-areola complex viability was not compromised nor sensation impaired. The mean Breast-Q score for patient satisfaction with breasts was 68.6 (range 61-74). The mean score for physiological wellbeing was 77.3 (range 64-84) and the mean score for physical wellbeing was 35 (range 31-40). CONCLUSION: Batwing mammoplasty is a safe and simple oncoplastic procedure in patients who have breast cancer with gigantomastia. It has short operative time and low complications rate. In our cohort of patients, there was no delay in the delivery of adjuvant treatment. The cosmetic outcome was favourable with a high patient satisfaction.

Recycling of agro-wastes for Ganoderma lucidum mushroom production and Ganoderma post mushroom substrate as soil amendment.

The in vitro growth of Ganoderma mycelia on six agro-wastes namely, broad bean stalks (BBS), cotton stalk (CS), maize straw (MS), rice straw (RS), sugarcane bagasse (SCB) and wheat straw (WS) supplemented with wheat bran (WB) or corn gluten (CG) was evaluated. Among the substrates used, CS appeared best followed by SCB and RS. WB showed best supplementation for mycelial growth. CO2 emission values exhibited accurate measurements to decide the suitability of such agro-waste for growth rather than visual observations. CS+RS+SCB+WB in combination proven its superiority for in vitro growth and active spawn development substrate. In mushroom house, this particular formula proved its superiority and was on par with recommended EG formula; it gave the highest yield (195.16 g Kg-1), biological efficiency (19.52%), protein (16.69%), polysaccharides (3.613%) and minerals (3433 mg/100 g). Spawn running period was the shortest in treatments inoculated with agro-waste-based spawns. With 40% biochar, days required to the complete mycelium colonization and fructification were 10.60 and 23.00, respectively. At 10% biochar, highest yields (238.40 g Kg-1), biological efficiencies (23.84%), protein (19.58%) and minerals (4092 mg/100 g) were obtained. The higher the biochar level, the higher the reduction in emitted CO2, the loss in C and the increase in N of Ganoderma post mushroom substrates (GPMSs). Under greenhouse conditions, almost all the tested GPMSs, at 0.125 or 0.25%, encouraged the reproduction of reniform nematodes and improved plant growth criteria.

Dynamic self-assembly of DNA minor groove-binding ligand DB921 into nanotubes triggered by an alkali halide.

We describe a novel self-assembling supramolecular nanotube system formed by a heterocyclic cationic molecule which was originally designed for its potential as an antiparasitic and DNA sequence recognition agent. Our structural characterisation work indicates that the nanotubes form via a hierarchical assembly mechanism that can be triggered and tuned by well-defined concentrations of simple alkali halide salts in water. The nanotubes assembled in NaCl have inner and outer diameters of ca. 22 nm and 26 nm respectively, with lengths that reach into several microns. Our results suggest the tubes consist of DB921 molecules stacked along the direction of the nanotube long axis. The tubes are stabilised by face-to-face π-π stacking and ionic interactions between the charged amidinium groups of the ligand and the negative halide ions. The assembly process of the nanotubes was followed using small-angle X-ray and neutron scattering, transmission electron microscopy and ultraviolet/visible spectroscopy. Our data demonstrate that assembly occurs through the formation of intermediate ribbon-like structures that in turn form helices that tighten and compact to form the final stable filament. This assembly process was tested using different alkali-metal salts, showing a strong preference for chloride or bromide anions and with little dependency on the type of cation. Our data further demonstrates the existence of a critical anion concentration above which the rate of self-assembly is greatly enhanced.

Preoperative estimation of cosmetic outcomes after immediate breast reconstruction with extended latissimus dorsi flap: A simple prediction model.

BACKGROUND: The extended latissimus dorsi (ELD) flap can provide adequate volume for breast reconstruction without an implant. The aim of this study was to identify a simple method to estimate preoperatively if the ELD flap would provide enough volume for breast reconstruction and good cosmetic outcome. The proposed model was based on correlating the preoperative body mass index (BMI) and breast cup size. METHODS: This retrospective cohort study included 64 patients who underwent immediate breast reconstruction with ELD at the National Cancer Institute, Cairo University, between January 2014 and January 2016. Preoperative breast cup size and patients' BMI were recorded. The primary end point was cosmetic outcome score assessed by three independent breast surgeons and the patients. Correlation analysis was performed between the preoperative factors and final cosmetic outcome. RESULTS: Sixty-four patients underwent immediate reconstruction following skin-sparing mastectomy. BMI range was 23-38 kg/m2 with a median of 28. All patients with cup size A had aesthetically pleasing results. As the breast cup size increased, the favorable cosmetic outcomes were noted with lower BMI. All patients with BMI higher than 33 had unfavorable results. CONCLUSION: Favorable cosmetic outcomes are expected after ELD reconstruction in patients with cup size A regardless of the BMI. As the breast cup size increases, favorable cosmetic outcomes are expected in patients with lower BMI than in those with higher BMI. At a BMI of 34, no favorable cosmetic outcomes are expected. The prediction model will be validated in a prospective study.

Phenotypic Screening In Vitro of Novel Aromatic Amidines against Trypanosoma cruzi.

The current treatment of Chagas disease (CD), based on nifurtimox and benznidazole (Bz), is unsatisfactory. In this context, we performed the phenotypic in vitro screening of novel mono- and diamidines and drug interaction assays with selected compounds. Ten novel amidines were tested for their activities against bloodstream trypomastigote (BT) and amastigote forms of Trypanosoma cruzi (Y and Tulahuen strains) and their toxicities for mammalian host cells (L929 cells and cardiac cells). Seven of 10 molecules were more active than Bz against BT, with the most active compound being the diamidine DB2267 (50% effective concentration [EC50] = 0.23 µM; selectivity index = 417), which was 28-fold more active and about 3 times more selective than the standard drug. Five of the six monoamidines were also more active than Bz. The combination of DB2267 and DB2236 in fixed-ratio proportions showed an additive effect (sum of fractional inhibitory concentrations < 4) on BT. Interestingly, when intracellular forms were exposed to DB2267, its activity was dependent on the parasite strain, being effective (EC50 = 0.87 ± 0.05 µM) against a discrete typing unit (DTU) II strain (strain Y) but not against a representative DTU VI strain (strain Tulahuen) even when different vehicles (ß-cyclodextrin and dimethyl sulfoxide) were used. The intrinsic fluorescence of several diamidines allowed their uptake to be studied. Testing of the uptake of DB2236 (inactive) and DB2267 (active) by amastigotes of the Y strain showed that the two compounds were localized intracellularly in different compartments: DB2236 in the cytoplasm and DB2267 in the nucleus. Our present data encourage further studies regarding the activities of amidines and provide information which will help with the identification of novel agents for the treatment of CD.

In vitro investigation of the efficacy of novel diamidines against Trypanosoma cruzi.

Chagas' disease is a neglected tropical disease caused by Trypanosoma cruzi and constitutes a serious public health problem for Latin America. Its unsatisfactory chemotherapy stimulates the search for novel antiparasitic compounds. Amidines and related compounds exhibit well-known activity towards different microbes including T. cruzi. In this vein, our present aim was to evaluate the biological effect of 10 novel structurally related amidines in vitro against bloodstream and intracellular forms of the parasite as well as their potential toxicity on cardiac cell cultures. Our results show that although active against the extracellular forms, with some of them like DB2247 being 6-fold more effective than benznidazole and displaying very low toxicity (>96 µm), none presented superior trypanocidal effect against intracellular forms as compared with the reference drug. These results may be due to differences in susceptibility profiles related to distinct uptake/extrusion mechanisms and cellular targets between bloodstream and amastigote forms. The present study adds to the knowledge base for the future design of novel amidines that may provide promising activity against T. cruzi.

In vitro and in vivo studies of the biological activity of novel arylimidamides against Trypanosoma cruzi.

Fifteen novel arylimidamides (AIAs) (6 bis-amidino and 9 mono-amidino analogues) were assayed against Trypanosoma cruzi in vitro and in vivo. All the bis-AIAs were more effective than the mono-AIAs, and two analogues, DB1967 and DB1989, were further evaluated in vivo. Although both of them reduced parasitemia, protection against mortality was not achieved. Our results show that the number of amidino-terminal units affects the efficacy of arylimidamides against T. cruzi.

Primary myxoid chondrosarcoma of the breast.

Primary breast chondrosarcoma has been rarely reported in the literature. Conservative breast surgery has never been part of the management of previously reported cases. Surgery remains the mainstay management of such a disease as it is resistant to chemotherapy and radiotherapy. In this report, we present a case of rare primary myxoid chondrosarcoma of the breast that was managed successfully with a conservative approach.

The trypanocidal activity of amidine compounds does not correlate with their binding affinity to Trypanosoma cruzi kinetoplast DNA.

Due to limited efficacy and considerable toxicity, the therapy for Chagas' disease is far from being ideal, and thus new compounds are desirable. Diamidines and related compounds such as arylimidamides have promising trypanocidal activity against Trypanosoma cruzi. To better understand the mechanism of action of these heterocyclic cations, we investigated the kinetoplast DNA (kDNA) binding properties and trypanocidal efficacy against T. cruzi of 13 compounds. Four diamidines (DB75, DB569, DB1345, and DB829), eight arylimidamides (DB766, DB749, DB889, DB709, DB613, DB1831, DB1852, and DB2002), and one guanylhydrazone (DB1080) were assayed in thermal denaturation (T(m)) and circular dichroism (CD) studies using whole purified T. cruzi kDNA and a conserved synthetic parasite sequence. The overall CD spectra using the whole kDNA were similar to those found for the conserved sequence and were indicative of minor groove binding. Our findings showed that some of the compounds that exhibited the highest trypanocidal activities (e.g., DB766) caused low or no change in the T(m) measurements. However, while some active compounds, such as DB766, induced profound alterations of kDNA topology, others, like DB1831, although effective, did not result in altered T(m) and CD measurements. Our data suggest that the strong affinity of amidines with kDNA per se is not sufficient to generate and trigger their trypanocidal activity. Cell uptake differences and possibly distinct cellular targets need to be considered in the final evaluation of the mechanisms of action of these compounds.

Is a subset of wrist ganglia the sequela of internal derangements of the wrist joint? MR imaging findings.

PURPOSE: To determine if there is an association between wrist ganglia and internal derangements of the wrist joint by reviewing magnetic resonance (MR) images. MATERIALS AND METHODS: Two observers retrospectively reviewed MR images of the wrist obtained in 625 patients at 1.5 T for the presence of ganglia and associated triangular fibrocartilage complex, scapholunate ligamentous, or lunotriquetral ligamentous tears that were within 3 mm of the ganglion. When available, surgery and/or pathology records were reviewed. RESULTS: There were 122 ganglia and 37 internal derangements. Of the 22 ulnar-sided ganglia, 10 (45%) demonstrated associated triangular fibrocartilage complex tears. Of the 97 radial-sided ganglia, 27 (28%) demonstrated ligamentous tears related to the site of the ganglion. The radial-sided tears involved the radial aspect of the triangular fibrocartilage complex in 12 ganglia; the scapholunate ligament, in isolation, in eight ganglia; and both the triangular fibrocartilage complex and the scapholunate ligament in six ganglia. Only one of the ganglia demonstrated an associated lunotriquetral ligamentous tear. Surgical findings confirmed the ligamentous tears in 25 patients. CONCLUSION: Wrist ganglia are associated, not infrequently, with internal derangements of the wrist.

Production of pro-inflammatory cytokines (GM-CSF, IL-8 and IL-6) by monocytes from fasciolosis patients.

The production of pro-inflammatory cytokines by monocytes in vitro has been measured in eight patients with acute fasciolosis and 15 patients in the chronic stage of the disease, before and after stimulation by excretory/secretory Fasciola antigen. Results were compared with those of a control group of 12 individuals. The monocytes from patients with acute fasciolosis produced significantly higher levels of GM-CSF, IL-8 and IL-6 as compared to controls. With chronicity, the production of these cytokines was decreased as compared to the acute stage probably due to decreased antigen level in blood. Stimulation of monocytes of healthy control with E/S Fasciola antigen was accompanied with a markedly increased production of pro-inflammatory cytokines, while monocytes from patients with acute or chronic fasciolosis revealed minimal increase in production. This denoted the importance of E/S Fasciola antigen as an activator of monocytes. A second exposure to the same antigen was accompanied with a limited response.

Studies on human fascioliasis in Egypt. 1--Seasonality of transmission.

The present study aimed at investigating the seasonality of human fascioliasis. The monthly distribution of acute infection was studied together with the monthly Lymnaea cailliaudi snail density and infection Infection was observed in both snail and human host through out the year. However maximal snail infection was observed during the months of June and July while the number of acute human infections peaked in August. It was concluded that summer was the highest transmission season. The clinical incubation period was considered one or two months.

Studies on Lymnaea snails and their trematode parasites in Abis II village, Alexandria.

Lymnaea snails in Abis II village were studied as regard their species, monthly distribution, density and infection rates in different water bodies. The trematode parasites in L. cailliaudi, the only species of Lymnaea in Abis II village were xiphidio in 40% of snails and Fasciola in 10%. Echinostome cercariae were detected from few snails outside Abis II village. The morphological characters of the different larval stages of the detected parasites were described.

Factors affecting the probability and timing of parity progression in Egypt.

PIP: Multiple classification and regression analyses were used to determine the effect of socioeconomic variables on the quantity and speed of progression to the next parity. Comparisons of observed and adjusted values help to explain the mechanism by which intermediate variables affect socioeconomic differences. The relative effect of intermediate variables on the probability of transition to the next parity varies between birth intervals. Data were obtained from the Egyptian Fertility Survey for 1980 on second and higher order births occurring 5-20 years before the survey. Birth intervals were indicated as 9-18, 19-24, 25-30, 31-45, and 46-60 months. Intermediate variables were mother's age at the start of the interval, length of the previous birth interval, and the survival of the child in the first year following its birth. Socioeconomic variables were place of residence, wife's education, husband's education, and time when the interval was started. Unadjusted birth probabilities and cumulative probabilities were estimated. The probability of having a next birth within five years of the first was inversely related to parity. The speed to the next birth appears to be faster at lower parities. Birth probabilities by age of the mother (young, medium, old) confirmed that speed is related to parity, except for the second birth interval where there were no differences by age in quantity or speed of transition. Women who started a birth interval at a late age, except for second interval, were less likely to move to a higher parity, and the movement was slow to the next birth interval. Birth probabilities by length of previous birth interval showed women with long birth intervals having successive long birth intervals; the length was related to the speed of transition. Birth probabilities after the death of a child were almost double the preceding birth interval; speed was not related to parity. Slower transition to the next birth interval occurred among older women, those with a long previous birth interval, and with a surviving infant. Differences in quantity and speed after the third birth interval were associated with type of residence, wife's education, and husband's education. Differences were associated with contraceptive use by older, urban, educated women and those married to educated husbands.^ieng

Socio-economic determinants of achieved fertility in Egypt.

The authors investigate socioeconomic determinants of fertility in Egypt. The paper "begins with the intermediate variables and then moves to [a] wider range of social, demographic and environmental influences....The results have shown that age and age related indicators (years since first union and age at first union) are the best group of independent indicators to explain number of children...."

The cost of children in Egypt.

PIP: In order to assess the cost of children throughout Egypt, in this case the direct maintenance costs of goods and services used until the child is self-supporting, a population sample representative of Egypt's total population in terms of socioeconomic status, occupation and geographical distribution was investigated. Food expenditures increase with the number of children in the household and with the rise in socioeconomic status. Educational expenses increase in a similar manner. There is positive correlation between the educational level of parents and their contribution to their children's education expenditures. The average amount spent on clothing per child declines the family size increases, especially within low socioeconomic groups. A rise in socioeconomic status or an increase in the number of children results in only a small increase in funds allocated for recreation. Results indicate that in rural societies the costs of children are small, but in urban and industrial workers' residence areas additional children result in additional spending.^ieng