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Key Clinical Message This case highlights that atrial fibrillation can occur as an adverse effect of tamsulosin even in younger patients at lower doses, challenging the conventional understanding that this complication primarily affects older individuals on higher doses. Clinicians should remain vigilant for this potential side effect across all patient demographics to ensure prompt identification and management.

Objectives: To implement and evaluate a rehabilitation-inclusive service delivery model at a tertiary cancer hospital. Methods: The “Rehab-Toolkit”, a structured assessment tool comprising validated functional measures, was introduced in an inpatient cancer service. Consecutive inpatients were enrolled, and a Reach, Effectiveness, Adoption, Implementation, and Maintenance framework guided the analysis of barriers and facilitators for subacute care at clinic and system levels. Results: The implementation of the Rehab-Toolkit was incorporated into routine inpatient care. Major pre-implementation barriers included: absence of routine standardized functional assessment tools, limited coordination amongst acute and subacute care providers, low awareness of rehabilitation medicine amongst patients and professionals, and insufficient engagement of subacute care with interdisciplinary stakeholders in clinical decision-making. Following the intervention, there was a notable increase in awareness and the contributory role of subacute rehabilitation services, rehabilitation “needs” assessment, and referral pathways. Recommendations for process change included: development of clinical pathways, establishment of subacute referral systems and discharge coordinator roles, inclusion of subacute rehabilitation services in acute interdisciplinary team meetings, enhanced staff education and knowledge. Conclusion: Integration of rehabilitation services into cancer care can proactively manage functional morbidity. While the implementation process proved feasible and effective, robust process evalu-ation and longer term follow-up are necessary for sustained success.

BackgroundThe use of antimicrobial-impregnated peripherally inserted central catheters (PICCs) has been introduced in the last few years to neonatal units aiming to reduce central line-associated bloodstream infection (CLABSI).MethodsThis retrospective observational study aimed to compare the CLABSI rates and other catheter-related parameters including the insertion success rates and catheter-related complications in the antimicrobial-impregnated and conventional (ordinary) PICCs in NICU between 2017 and 2020.ResultsOur dedicated PICC team including physicians and nurses inserted 1,242 conventional (PremiCath and NutriLine) and 791 antimicrobial-impregnated PICCs (PremiStar) over the study period from 2017 to 2020. Of those 1,242 conventional PICCs, 1,171 (94.3%) were 1 Fr single lumen and only 71 (5.7%) were 2 Fr double lumen. The mean ± SD [median (IQR)] for the birth weight in all babies who had a PICC line was 1,343.3 ± 686.75 [1,200 (900, 1,500)] g, while the mean ± SD for the gestational age was 29.6 ± 4.03 [29 (27, 31)] weeks. The mean ± SD [median (IQR)] age at the time of insertion for all catheters was 9.3 ± 21.47 [2 (1, 9)] days, while the mean ± SD [median (IQR)] dwell time was 15.7 ± 14.03 [12 (8, 17)] days. The overall success rate of the PICC insertion is 1,815/2,033 (89.3%), while the first attempt success rate is 1,290/2,033 (63.5%). The mean ± SD [median (IQR)] gestational age, birth weight, age at catheter insertion, and catheter dwell time were 28.8 ± 3.24 [29, (26, 31)] weeks, 1,192.1 ± 410.3 [1,150, (900, 1,450)] g, 6.3 ± 10.85 [2, (1, 8)] days, and 17.73 ± 17.532 [13, (9, 18)] days in the antimicrobial-impregnated catheter compared with 30.1 ± 4.39 [29, (27, 32)] weeks (P

Abstract Background Diabetes Mellitus (DM) is a major cause of maternal, fetal, and neonatal morbidities. Our objective was to estimate the effect of both pre-pregnancy and gestational DM on the growth parameters of newborns in the Qatari population. Methods In this population-based cohort study, we compared the data of neonates born to Qatari women with both pre-pregnancy and gestational diabetes mellitus in 2017 with neonates of healthy non-diabetic Qatari women. Results Out of a total of 17020 live births in 2017, 5195 newborns were born to Qatari women. Of these, 1260 were born to women with GDM, 152 were born to women with pre-pregnancy DM and 3783 neonates were born to healthy non-diabetic (control) women. The prevalence of GDM in the Qatari population in 2017 was 24.25%. HbA1C% before delivery was significantly higher in women with pre-pregnancy DM (mean 6.19 ± 1.15) compared to those with GDM (mean 5.28 ± 0.43) (P 4000 gm) was observed in 2.7% of the control group compared to 4.8% in infants born to women with GDM, and 4.6% in infants born to women with pre-pregnancy DM (P= 0.001). Multivariate logistic regression analysis demonstrated that higher maternal age (adjusted OR 2.21, 95% CI 1.93, 2.52, P

Abstract Introduction Respiratory Distress Syndrome (RDS) is a common cause of neonatal morbidity and mortality in premature newborns. In this study, we aim to compare the reintubation rate in preterm babies with RDS who were extubated to Nasal Continuous Positive Airway Pressure (NCPAP) versus those extubated to Nasal Intermittent Positive Pressure Ventilation (NIPPV). Methods This is a retrospective study conducted in the Neonatal Intensive Care Unit (NICU) of Women’s Wellness and Research Center (WWRC), Doha, Qatar. The medical files (n = 220) of ventilated preterm infants with gestational age ranging between 28 weeks 0 days and 36 weeks + 6 days gestation and extubated to non-invasive respiratory support (whether NCPAP, NIPPV, or Nasal Cannula) during the period from January 2016 to December 2017 were reviewed. Results From the study group of 220 babies, n = 97 (44%) babies were extubated to CPAP, n = 77 (35%) were extubated to NIPPV, and n = 46 (21%) babies were extubated to Nasal Cannula (NC). Out of the n = 220 babies, 18 (8.2%) were reintubated within 1 week after extubation. 14 of the 18 (77.8%) were reintubated within 48 h of extubation. Eleven babies needed reintubation after being extubated to NCPAP (11.2%) and seven were reintubated after extubation to NIPPV (9.2%), none of those who were extubated to NC required reintubation (P = 0.203). The reintubation rate was not affected by extubation to any form of non-invasive ventilation (P = 0.625). The mode of ventilation before extubation does not affect the reintubation rate (P = 0.877). The presence of PDA and NEC was strongly associated with reintubation which increased by two and four-folds respectively in those morbidities. There is an increased risk of reintubation with babies suffering from NEC and BPD and this was associated with an increased risk of hospital stay with a P-value ranging (from 0.02–0.003). Using multivariate logistic regression, NEC the NEC (OR = 5.52, 95% CI 1.26, 24.11, P = 0.023) and the vaginal delivery (OR = 0.23, 95% CI 0.07, 0.78, P = 0.018) remained significantly associated with reintubation. Conclusion Reintubation rates were less with NIPPV when compared with NCPAP, however, this difference was not statistically significant. This study highlights the need for further research studies with a larger number of neonates in different gestational ages birth weight categories. Ascertaining this information will provide valuable data for the factors that contribute to re-intubation rates and influence the decision-making and management of RDS patients in the future.

Abstract Persistent thrombocytosis in patients with cancer needs workup because it can be linked to essential thrombocytosis. The management should be individualized to start treatment for low‐risk essential thrombocytosis due to the combined risk of thrombosis.

Since the emergence of the coronavirus (COVID-19) pandemic beginning in China in 2019, all health workers have faced a difficult challenge. One challenge is a clinical picture in some cases, where the presenting symptoms do not fit with the usual pattern. In this report, we present a case whose initial symptoms were headache, dizziness, and vomiting suggesting malaria bearing in mind that the patient was from Sudan, where there is a high incidence of malaria. These unusual symptoms may be attributed to the presence of the receptor ACE2, in various body systems. The mild pathological course may be related to the patient’s age and the fact that diabetic patients are less likely to develop lung injury, hence the absence of respiratory symptoms. We recommend that physicians are alert to the variety of different presenting features of COVID-19 and test with Polymerase Chain Reaction (PCR) whenever there is doubt.

Abstract Background Drug-induced liver injury (DILI) represents an increasing morbidity in the general population, but more so in the elderly cohort of patients. Despite this, the concept of its prevention through prospective analysis has largely remained unexamined. We evaluated the utility of recently validated adverse drug reactions (ADR) avoidability tool in a cohort of elderly patients with DILI. Methods We examined 38 DILI-drug pairs from n=38 patients in a prospective cohort of patients presenting with adverse drug reactions to a Weill Cornell-affiliated tertiary hospital between February 2019 and January 2020. DILI outcomes were adjudicated by the updated Roussel Uclaf Causality Assessment Method (RUCAM). Two clinical pharmacologists and two general physicians utilized the Liverpool adverse drug reactions avoidability tool (LAAT) and the modified Hallas tools to rate the preventability of DILI-drug pairs. Inter-rater, exact agreement proportions, as well as intraclass correlation coefficients were generated and expressed as ordinal outcomes. Results The cases examined for the determination of DILI avoidability had probability likelihood of “probable” or “highly probable” by the updated RUCAM scale. Examination of the 38 DILI-drug pairs (n= 38 patients) resulted in a total of 152 ordinal outcome decisions. We found about 32.3% (50/152) and 34.2% (52/152) of DILI-drug pairs were rated as “avoidable” (“probable” or “definite”) by the LAAT and the modified Hallas tools respectively. The overall median Krippendorf’s kappa with the LAAT was 0.61 (SE 0.12, CI 0.36, 0.85) and for modified Hallas tool was 0.53 (SE 0.18; CI 0.16, 0.89). The inter-rater correlation coefficient (ICC) for the LAAT and modified Hallas were 0.50 [0.32, 0.65] and 0.63 [0.48, 0.76] respectively. Exact pairwise agreement was present in 30/38 (IQR 29.5, 34.5), and 28/38 (IQR 27.5-35.5) of DILI-ADR pairs using the LAAT and modified Hallas tools respectively. Conclusion We found a significant proportion of drug-induced liver injury adjudicated by the updated RUCAM scale in elderly hospitalized cohort of patients were avoidable with significant implication for therapeutic commissioning as well as cost effectiveness interventions in this cohort of patients.

Metastatic ovarian cancer to the breast is a rare presentation, with limited cases reported worldwide. Common sites for distant metastasis in ovarian cancer are to the liver, lung, and pleura [Dauplat et al. Cancer. 1987 Oct 1;60(7):1561–6]. Usually, such cases predict poor prognosis with troublesome management. We present one challenging case of a 54-year-old female patient with recurrent clear cell ovarian cancer, presenting with right breast mass of primary versus secondary origin, progressing into inflammatory breast cancer picture. Our report aims to shed light on the value of early suspicion and low threshold of detecting secondary breast masses of ovarian cancer origin.

Abstract Background Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula. Case presentation The present family has two affected males (aged 6.5 and 17 years) with unsteady gait apparent since learning to walk at 2.5 and 3 years, respectively. The younger patient showed gait ataxia and normal reflexes. The older patient had saccadic eye movement, dysarthria, mild upper and lower limb and gait ataxia (on tandem walking), and enhanced reflexes in the lower limbs. Cognitive abilities were mildly impaired in the younger sibling (IQ 67) and borderline in the older patient (IQ 72). Nerve conduction studies were normal in both patients. MRI was normal at 2.5 years in the younger sibling. Brain MRI showed normal cerebellar volume and folia in the older sibling at the age of 6 years, and revealed minimal superior vermian atrophy at the age of 16 years. Autozygome and exome analysis showed both affected have previously reported homoallelic mutation in RUBCN (NM_014687:exon18:c.2624delC:p.A875fs), whereas the parents are carriers. Autozygosity mapping focused on smallest haplotype on chromosome 3 and mutation age analysis revealed the mutation occurred approximately 1550 years ago spanning about 62 generations. Conclusions Our findings validate the slowly progressive phenotype of Salih ataxia (SCAR15, OMIM # 615705) by an additional family. Haplotype sharing attests to a common founder, an ancient RUBCN mutation in the Arab population.

Objective: To examine the responsiveness of the International Classification of Functioning, Disability and Health (ICF) Clinical Functioning Information Tool (ClinFIT) in routine clinical practice in an Australian context. Methods: A prospective observational study with consecutive recruitment of inpatients at a tertiary rehabilitation facility. The assessments were at admission (T0), discharge (T1) and 3-month postdischarge (T2), using the following questionnaires: ClinFIT, Functional Independence Measure (FIM) and European Quality of Life (EQ-5D-5L). Extension Indices (EI) were calculated for the ClinFIT set, and responsiveness measured as a change in scores over time. The association between FIM and ClinFIT scores was explored. Results: Participants (n = 91, mean age 66.8±13.0 years, 52% male, 48% following stroke) reported ≥ 1 issue related to ClinFIT categories. ClinFIT total raw scores improved significantly across all health conditions compared with T0 (median (interquartile range): 196 (110, 228)) at both T1: 69 (37, 110); p < 0.001 and T2: 46.5 (20.8, 77); p < 0.001, with a medium effect size (r = 0.61 for both). There were significant changes in EI in the entire ClinFIT set from T0 to T1, and from T0 to T2 (p < 0.001 for both), with small to medium effect sizes. Analyses confirmed significant correlation in improvements between ClinFIT and FIM scores. Conclusion: ClinFIT is useful in evaluating patient functioning and can detect changes in functioning over time and across different health conditions. LAY ABSTRACT Regular patient evaluation and clinical assessment is needed to maximize positive outcomes from rehabilitation intervention. This prospective study assessed the responsiveness of the International Classification of Functioning, Disability and Health (ICF) – Clinical Functioning Information Tool (ClinFIT) for the assessment of functioning in an inpatient rehabilitation facility in Australia. Overall, 91 patients with different health conditions (majority with stroke) were assessed at admission, discharge, and at 3 months after discharge, using the ClinFIT set, and compared with another routinely used instruments, the Functional Independence Measure (FIM). The findings showed that the ClinFIT set is useful in evaluating patients’ functioning over time across different health conditions.

Objectives We aimed to compare the success rates and other catheter-related parameters between peripherally inserted central catheters (PICCs) and non-tunnelled ultrasound-guided central venous catheters (USG-CVCs) including femoral, jugular, brachiocephalic and subclavian lines.Design This was a retrospective observational study.Setting The study was performed in a level III neonatal intensive care unit (NICU) in Qatar, as a single-site study.Participants This study included 1333 neonates who required CVC insertion in the NICU from January 2016 to December 2018. Of those, we had 1264 PICCs and 69 non-tunnelled USG-CVCs.Outcome measures The success rate and other catheter-related complications in the two groups.Results The overall success rate was 88.4% in the USG-CVCs (61/69) compared with 90% in the PICCs (1137/1264) group (p=0.68). However, the first prick success rate was 69.4% in USG-CVCs (43/69) compared with 63.6% in the PICCs (796/1264) group. Leaking and central line-associated blood stream infection (CLABSI) were significantly higher in the USG-CVC group compared with the PICC group (leaking 16.4% vs 2.3%, p=0.0001) (CLABSI 8.2% vs 3.1%, p=0.03). CLABSI rates in the PICC group were 1.75 per 1000 catheter days in 2016 and 3.3 in 2017 compared with 6.91 in 2016 (p=0.0001) and 14.32 in 2017 (p=0.0001) for the USG-CVCs. USG-CVCs had to be removed due to catheter-related complications in 52.5% of the cases compared with 29.9% in PICCs, p=0.001. In 2018, we did not have any non-tunnelled USG-CVCs insertions in our NICU.Conclusions The overall complication rate, CLABSI and leaking are significantly higher in non-tunnelled USG-CVCs compared with the PICCs. However, randomised controlled trials with larger sample sizes are desired. Proper central venous device selection and timing, early PICC insertion and early removal approach, dedicated vascular access team development, proper central venous line maintenance, central line simulation workshops and US-guided insertions are crucial elements for patient safety in NICU.

We describe the process of implementation, adaptation, expansion and some related clinical intuitional impacts of the neonatal simulation program since its launch in 2016 in a non-simulation neonatal unit. The team has developed 6 types of curricula: 1 full-day course and 5 half-day workshops. A total of 35 free of charge simulation courses/workshops were conducted, 32 in Qatar and 3 abroad with a total of 799 diverse participants. There was a steady increase in the overall success rate of PICC insertion from 81.7% (309/378) to 97.6% (439/450) across 3 years (P < 0.0001). The first attempt PICC insertion success rate has been also increased from 57.7% (218/378) to 66.9% (301/450) across 3 years. The mean duration of PICC insertion has been improved from 39.7 ± 25 to 34.9 ± 12.4 min after implementing the program (P = 0.33). The mean duration of the LISA catheter insertion at the beginning of the workshop was 23.5 ± 15.9 compared to 12.1 ± 8.5 s at the end of the workshop (P = 0.001). When it came to clinical practise in real patients by the same participants, the overall LISA catheter insertion success rate was 100% and the first attempt success rate was 80.4%. The mean duration of LISA catheter insertion in real patients was 26.9 ± 13.9 s compared to the end of the workshop (P = 0.001). The mean duration of the endotracheal intubation at the beginning of the workshop was 12.5 ± 9.2 compared to 4.2 ± 3.8 s at the end of the workshop (P = 0.001). In real patients, the first-attempt intubation success rate has been improved from 37/139 (26.6%) in the first year to 141/187 (75.5%) in the second year after the program implementation (P = 0.001). The mean duration of successful endotracheal intubation attempts has been improved from 39.1 ± 52.4 to 20.1 ± 9.9 s (P = 0.78). As per the participants, the skills learned in the program sessions help in protecting neonates from potential harm and improve the overall neonatal outcome. Implementing a neonatal simulation program is a promising and feasible idea. Our experience can be generalised and replicated in other neonatal care institutions.

Objective: To assess the utility of the modified Post-Stroke Checklist (mPSC) to identify impairments and care needs of patients with stroke (PwS) in an inpatient rehabilitation setting. Methods: Prospective observational design with consecutive admission of PwS (n = 44) at a tertiary rehabilitation facility. The post-stroke checklist was administered at hospital discharge (T1) and 3 months post-discharge (T2). Furthermore, validated questionnaires assessed function and participation, including the Clinical Functioning Information Tool (ClinFIT) on admission (T0), T1 and T2. Results: Participants’ mean age was 67.7 years (standard deviation; SD) 14.6), 58% of participants were female, and the mean length of inpatient stay was 32.7 days (SD 22.4). At T1, 80% and at T2 only 60% of participants reported ≥1 stroke-related problem (mean 5.3 (SD 3.3) and 3.6 (SD 2.8), respectively). Half of participants were referred to physiotherapy/occupational therapy, and 36% to specialist clinics following discharge. The most prevalent problems included: life after stroke (62.2%), fatigue (55.6%), activities of daily living, and mobility (51.1% each). Compared with T1, at T2 there was an observed reduction in all mPSC items, except pain and incontinence. Participants showed improved function at T1 and T2 (Extension Index, ClinFIT set), from T0 to T1 and T0 to T2 (p

The coronavirus pandemic (COVID-19) has placed enormous challenges on the health sector. Diagnosis is one of these challenges, where a clinical presentation may suggest a disease other than COVID-19. In this review we describe many presentations unrelated to the respiratory system. The ACE2 receptor is present in a wide variety of body tissues and it appears that this may be a link with the clinical pathology. To find these data we searched the major academic research engines, Google Scholar, and Pubmed, as well as the most recent case reports and original research published in specialized journals. An awareness of these uncommon presentations helps health workers to recognize and treat the disease early and appropriately.

Multiple Myeloma (MM) is a high spread type of blood cancers, which means that a variety of consequences are more likely to occur. Neurological disorders are some of these consequences that deplete the patient’s capacity and productivity. Yet only a few scientific papers have addressed the mechanism aspect. Hence, our aim in this in this review is to discuss the pathophysiology of neurological complications due to MM will. To do this in a simplified manner, we have classified these diseases according to the mechanism that they are shared. We recommend that oncologists and hematologists in particular, and all physicians in general, take into account the discussed neuropathies, and accompany it in the process of making differential diagnoses. Moreover, identified concepts are suggested to form the the basis for choosing appropriate diagnostic and treatment plans.

Improving the mechanical properties of low-strength soils (e.g., high plasticity clays) is one of the main branches of geotechnical engineering. The adoption of stabilization techniques for ensuring that structures will be founded on an adequately strong soil base is a common practice. Stabilization techniques for clay soils may include inert materials (cohesionless soils), chemical substances (cement, lime, or industrial additives), or the use of randomly distributed fibers. While all of these additives are added to low-strength soils by mixing, the question remains whether an optimal combination of stabilization techniques can be achieved for maximizing soil strength. Besides, each one of these additives contributes to an increase in soil strength in a different manner (soil replacement, chemical bonding of soil particles, and soil reinforcement respectively), while, according to the literature, each technique has its limitations. The latter refers to a limited effect on strength improvement and a maximum possible percentage, beyond which an additive has an adverse effect on strength; it also refers to other factors, such as brittleness failure, material availability, overall cost, and environment-related issues. Hence, in the present study, the efficiency of improving the basic geotechnical properties of a very high plasticity clay (liquid limit ωl = 86%) with a coupled effect between dune sand, lime, and polypropylene (PP) fibers has been investigated. The samples prepared by combining the three aforementioned soil improvement techniques were compared in terms of plasticity, compaction characteristics, unconfined compressive strength (UCS), and California Bearing Ratio (CBR) index. The experimental results show that the combination of these additives may lead to a considerable improvement in the strength and ductility of soils, even with a small amount of lime additive. Also, it was observed that 20% of sand, 3.4% of lime and 0.9% of fibers (by wt%) offers the best performance in terms of strength improvement for the clay tested (i.e., 12.75 times improvement compared to the untreated clay).

Background and Objectives: Migraine is caused by genetic susceptibility that is triggered by environmental as well as biological factors, and it is also linked to many somatic comorbidities, including clinical and subclinical hypothyroidism. We aimed to estimate the potential association between subclinical hypothyroidism (ScH) and migraine in children at our tertiary hospital. Materials and Methods: Using a case–control strategy, 200 children and adolescents were assigned to two equal groups: a case group (patients with migraine) of 100 patients and a control group of 100 patients without migraine. Clinical and biochemical parameters (TSH, FT4) were compared between the groups using statistical analysis. Results: Thyroid function comparison between the groups showed higher TSH but normal FT4 among children with migraine headache compared to the control group, which means more frequent ScH cases among the migraine group relative to the control (17% vs. 2%, p < 0.001). Obesity and overweight were more frequent among patients with migraine than the control group (8 and 5% vs. 2 and 1%, respectively). The (overweight/obese) patients with migraine had about 77% ScH and 15.4% overt hypothyroidism compared to 8% ScH and no overt hypothyroidism among normal body weight migraine patients (p < 0.001). No significant difference in the prevalence of nodular goiter between patients with migraine and controls was found. Conclusions: Based on our results, subclinical hypothyroidism is significantly linked to childhood migraine. Obesity and being overweight are more frequent among patients with migraine. Therefore, it may be logical to test the thyroid function in migraineur children, especially those with high BMI. Further studies are recommended to discover the mechanism of this association in children.

ObjectiveTo identify a genetic cause for migrating partial seizures in infancy (MPSI).MethodsWe characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorphism 500K data to identify regions with evidence of linkage. We performed whole exome sequencing and analyzed homozygous variants in regions of linkage to identify a candidate gene and performed functional studies of the candidate gene SLC25A22.ResultsIn a consanguineous pedigree with 2 individuals with MPSI, we identified 2 regions of linkage, chromosome 4p16.1-p16.3 and chromosome 11p15.4-pter. Using whole exome sequencing, we identified 8 novel homozygous variants in genes in these regions. Only 1 variant, SLC25A22 c.G328C, results in a change of a highly conserved amino acid (p.G110R) and was not present in control samples. SLC25A22 encodes a glutamate transporter with strong expression in the developing brain. We show that the specific G110R mutation, located in a transmembrane domain of the protein, disrupts mitochondrial glutamate transport.InterpretationWe have shown that MPSI can be inherited and have identified a novel homozygous mutation in SLC25A22 in the affected individuals. Our data strongly suggest that SLC25A22 is responsible for MPSI, a severe condition with few known etiologies. We have demonstrated that a combination of linkage analysis and whole exome sequencing can be used for disease gene discovery. Finally, as SLC25A22 had been implicated in the distinct syndrome of neonatal epilepsy with suppression bursts on electroencephalogram, we have expanded the phenotypic spectrum associated with SLC25A22.

Abstract Background Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far. Case presentation Two siblings, aged 18 years and 15 years, from a consanguineous family presented with pyramidal signs and symptoms since infancy and developmental delay. Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2. Sanger sequencing confirmed the presence of the mutations and their segregation in trans in both patients and in their elder sister (aged 20 years), who showed only brisk reflexes and mild lower limb spasticity. Surprisingly, in contrast to her subtle clinical presentation, the elder sister had abnormal MRI features and serum lactate levels comparable to her ill sisters. Conclusion This report illustrates intra-familial phenotypic variation in LBSL and provides an example of a marked dissociation between the clinical and radiological phenotypes of the disease. This may have implications for the detection of mutation carriers in LBSL.

Background: Neonatal admission generally refers to the admission of newborns under 29 days old into a health facility for medical care. Because neonates are fragile and yet to develop competent immune system, they are prone to infections, and most of the illnesses they acquire usually require critical care, hence their admission to the neonatal intensive care units (NICUs). High global neonatal death have triggered improve fatality-based care. Methods: this hospital based retrospective study was conducted in the NICU of Atbara teaching hospital in River Nile State, Sudan. Data was collected from medical records of 300 neonate. Results: 68.7% of the neonates were term, while 18.0% were early preterm, 8.3% were late preterm, 4.0% were post-date, and 1.0% were post-term. Moreover, the most common morbidity among them were sepsis, preterm births, HIE, meconium aspiration syndrome, N-jaundice respiratory distress syndrome, and the mortality rate was 15.4% Conclusions: Majority of causes of neonatal morbidity and mortality in our study were preventable diseases. Therefore, interventions to improve services in the NICU are highly needed to improve the outcomes. [ABSTRACT FROM AUTHOR]

Objective: Despite the prevalence of disability in low-and middle-income countries, the clinical skills of the rehabilitation workforce are not well described. We report health professionals’ perspectives on clinical skills in austere settings and identify context-specific gaps in workforce capacity. Methods: A cross-sectional pilot survey (Pakistan, Morocco, Nigeria, Malaysia) of health professionals’ working in rehabilitation in hospital and community settings. A situational-analysis survey captured assessment of clinical skills required in various rehabilitation settings. Responses were coded in a line-by-line process, and linked to categories in domains of the International Classification of Functioning, Disability and Health (ICF). Results: Respondents (n = 532) from Pakistan 248, Nigeria 159, Morocco 93 and Malaysia 32 included the following: physiotherapists (52.8%), nurses (8.8%), speech (5.3%) and occupational therapists (8.5%), rehabilitation physicians (3.8%), other doctors (5.5%) and prosthetist/orthotists (1.5%). The 10 commonly used clinical skills reported were prescription of: physical activity, medications, transfer-techniques, daily-living activities, patient/carer education, diagnosis/screening, behaviour/cognitive interventions, comprehensive patient-care, referrals, assessments and collaboration. There was significant overlap in skills listed irrespective of profession. Most responses linked with ICF categories in activities/participation and personal factors. Conclusion: The core skills identified reflect general rehabilitation practice and a task-shifting approach, to address shortages of health workers in low-and middle-income countries.

Objective: To identify potential barriers and facilitators for implementation of the World Health Organization Global Disability Action Plan (GDAP) in Nigeria and compare these with other low- and middle-income countries. Methods: A rehabilitation team from the Royal Melbourne Hospital, Parkville, Australia, conducted intensive workshops at medical/academic institutions in Nigeria for healthcare professionals from various local Physical Medicine and Rehabilitation facilities. A modified Delphi method identified challenges for person with disability, using 3 GDAP objectives. Findings were compared with similar exercises in Madagascar, Pakistan and Mongolia. Results: Despite differences in the healthcare system and practice, the challenges reported in Nigeria were similar to those in other 3 low- and middle-income countries, at both macro (governmental/policymakers) and micro levels (community/social/individual). Common challenges identified were: limited knowledge of disability services, limited Physical Medicine and Rehabilitation workforce, guidelines and accreditation standards; coordination amongst healthcare sectors; social issues; data and research; legislation and political commitment. Common potential facilitators included: need for strong leadership; advocacy of disability-inclusive development; investment in infrastructure/human resources; coordination/partnerships in healthcare sector; and research. Conclusion: Disability care is an emerging priority in low- and middle-income countries to address the needs of people with disability. The challenges identified in Nigeria are common to most low- and middle-income countries. The GDAP framework can facilitate access and strengthen Physical Medicine and Rehabilitation services.

Objectives Acute appendicitis is the most common surgical condition in children. In the UK, appendicectomy is the most common treatment with non-operative management unusual. Due to concerns about the risk of SARS-CoV-2 transmission during surgical procedures, surgeons were advised to consider non-operative treatment and avoid laparoscopy where possible. This study aims to report management and outcomes, to date, of children with appendicitis in the UK and Ireland during the COVID-19 pandemic.Design Survey of consultant surgeons who treat children with appendicitis that informed a prospective multicentre observational cohort study.Setting Data were collected from centres in the UK and Ireland for cases admitted between 1 April and 31 May 2020 (first 2 months of the COVID-19 pandemic) at both general surgical and specialist paediatric surgical centres.Participants The study cohort includes 838 children with a clinical and/or radiological diagnosis of acute appendicitis of which 527 (63%) were male.Main outcomes measured Primary outcome was treatment strategy used for acute appendicitis. Other outcomes reported include change in treatment strategy over time, use of diagnostic imaging and important patient outcomes to 30 days following hospital admission.Results From very early in the pandemic surgeons experienced a change in their management of children with appendicitis and almost all surgeons who responded to the survey anticipated further changes during the pandemic. Overall, 326/838 (39%) were initially treated non-operatively of whom 81/326 (25%) proceeded to appendicectomy within the initial hospital admission. Of cases treated initially surgically 243/512 (48%) were performed laparoscopically. Diagnostic imaging was used in 445/838 (53%) children. Cases treated non-operatively had a shorter hospital stay than those treated surgically but hospital readmissions within 30 days were similar between groups. In cases treated surgically the negative appendicectomy rate was 4.5%. There was a trend towards increased use of surgical treatment and from open to laparoscopic appendicectomy as the pandemic progressed.Conclusion Non-operative treatment of appendicitis has been widely used for the first time in children in the UK and Ireland and is safe and effective in selected patients. Overall patient outcomes do not appear to have been adversely impacted by change in management during the pandemic thus far.

A 45-year-old female developed neurological symptoms and elevated diastolic blood pressure while on bevacizumab (Avastin) and gemcitabine for recurrent carboplatin-resistant high-grade serous ovarian cancer. A brain MRI diagnosed our patient with posterior reversible encephalopathy syndrome. We are discussing her presenting symptoms in this paper as well as the management and the outcome. We emphasize the importance of keeping this rare but very serious complication in all patients receiving bevacizumab.

This paper compares published writing produced by British and Sudanese medical researchers. Twenty research articles were examined, 10 by British and 10 by Sudanese writers. All had been published in highly regarded international journals. As expected, all 20 articles conformed to editorial requirements and followed the conventional IMRD structure to a large extent. Differences were noted in the realisation of these components, however, and particularly in the discussion section where the reported findings were interpreted in terms of their significance and relevance. The British and Sudanese writers differed in their use of hedging, and the British writing made far greater use of nominalisation, both to express authorial disinterestedness and to realise processes and attributes in a more succinct way. Such variations are subtle and may not be immediately obvious to the reader, but could usefully inform the content of academic writing courses in Sudanese medical schools. (Contains 4 tables.)