Complications of Intrathecal Baclofen Pump Therapy: An Institutional Experience from Saudi Arabia.

The intrathecal baclofen pump (ITB) is one of the advanced treatment options in the management of spasticity. This retrospective cohort study was conducted to identify the complications of ITB treatment at a tertiary care rehabilitation facility. Various demographic and technical factors were analyzed, which are less often reported in the literature. All patients with ITB who had their refill at the ITB clinic between November 2019 and March 2020 were included. Of 48 patients, 17 patients had 18 (37.5%) ITB-related complications. Catheter-related complications were most common, whereas loss of efficacy (16.7%) and baclofen withdrawal (14.5%) were the most common outcomes of complications. Only catheter occlusion had a significant relationship with the pattern of spastic quadriparesis (p = 0.001). Gender, rehabilitation diagnosis, patients' residence, and facility of ITB placement did not have significant association. Similarly, age, distance from hospital, disease onset, ITB therapy duration, and baclofen dose were not statistically significant in relation to ITB-related complications.

Diagnosis of group A streptococcal pharyngitis in the paediatric emergency department using a fluorescence-based RADT: predicted impact on antibiotic prescription.

Introduction. Using rapid antigen diagnostic tests (RADTs) in clinical practice has shown excellent specificity but often has diminished sensitivity.Gap Statement. Local data for evaluating the diagnostic performance of a new fluorescence-based RADT and its influence on the antibiotic prescription rate are not available.Aim. To evaluate the accuracy of fluorescent immunoassay (FIA)-RADTs for diagnosing group A streptococcal (GAS) pharyngitis among children and its estimated effect as a point of care test (POCT) on the antibiotic prescription rate at the paediatric emergency department.Methodology. A prospective study was conducted, comprising children 3 to 14 years old presenting with pharyngitis. Throat swab culture and FIA-RADTs were performed on all samples. Conventional PCR was performed on the discordant samples.Results. A total of 246 children were included in this study. The sensitivity, specificity, and positive and negative predictive values of the FIA-RADT, based on culture results and PCR detection combined, were 95.6, 96.8, 94.6 and 97.4 %, respectively. Antibiotics have been prescribed to 162 (65.9 %) children; however, if FIA-RADTs had been added in the clinical practice as a POCT, only 92 (37.4 %) children would have received antibiotics in total. Additionally, implementation of FIA-RADTs would significantly reduce the antibiotic prescription rate from 48.8 and 60.6 % to 9.5 and 31.9 % among patients with clinical scores of 2 and 3, respectively.Conclusion. The new FIA-RADT is simple, prompt and reliable. It is helpful in clinical settings and may be used to reduce antibiotic overprescription, especially for children who have a low risk for GAS pharyngitis, according to the clinical score.

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

We reviewed our institutional experience from 2011 to 2015 on new cases of Fanconi anemia (FA). Ten unrelated cases were diagnosed during this period. Four patients with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) BRIP1/FANCJ mutation. Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation. One individual with SAA and acute myeloid leukemia had c.637_643del (p.Tyr213Lysfs*6) FANCG mutation. Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation. Another infant with c.3425del PALB2 mutation had clonal aberration with partial trisomy of the long arm of chromosome 17. Mutations in FA downstream pathway genes are more frequent in our series than expected. Our preliminary observation will be confirmed in a large multi-institutional study.

High-dose Chemotherapy With Autologous Stem Cell Rescue in Saudi Children Less Than 3 Years of Age With Embryonal Brain Tumors.

High-dose chemotherapy with autologous stem cell rescue (HDC/ASCR) has been used in children under the age of 3 years with embryonal brain tumors to avoid or delay the use of radiation. We reviewed the medical records of 10 Saudi children less than 3 years of age with embryonal brain tumors who underwent HDC/ASCR. All 10 patients underwent surgical resection followed by 3 to 5 cycles of induction chemotherapy and 1 to 3 cycles of HDC/ASCR using carboplatin and thiotepa. Isotretinoin was used as a maintenance therapy in 4 patients. Five patients had medulloblastoma, 3 had atypical teratoid/rhabdoid tumors, 1 had an embryonal tumor with abundant neuropil and true rosettes, and 1 had pineoblastoma. The median age of the patients was 1.9 years. A total of 19 HDC/ASCR procedures were performed. Radiotherapy (RT) was administered to 5 patients after HDC/ASCR and as a salvage therapy in 1 patient. The progression-free survival rate was 50% at 1 year and at 2 years, with a median follow-up of 24 months. All 5 patients with medulloblastoma are still alive without evidence of disease, but the other patients died secondary to tumor progression. This experience suggests that strategies combining myeloablative chemotherapy and autologous stem cell rescue appear to be feasible for children with embryonal brain tumors in the Middle East.