Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay. Spinal cord disease has been reported rarely. We describe a 3-year-old boy with profound biotinidase deficiency who presented with progressive spastic paraparesis and ascending weakness in the absence of the usual characteristic neurological manifestations. Supplementation with biotin resulted in resolution of paraparesis with persistent mild spasticity in the lower limbs. DNA mutation analysis revealed that he was homozygous for a novel missense mutation (C>T1339;H447Y) in the BTD gene. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage.

No abstract

Background To compare the efficacy and safety of standard percutaneous nephrolithotomy (PCNL) with mini- PCNL for kidney stones 2–4 cm. Methods Eighty patients were enrolled in a comparative study, they were randomly divided into mini-PCNL group (n = 40) and standard-PCNL (n = 40). Demographic characteristics, perioperative events, complications, stone free rate (SFR) were reported. Results Both groups showed no significant difference in clinical data about age, stone location, back pressure changes, and body mass index. The mean operative time was (95 ± 17.9 min) in mini-PCNL, and (72.1 ± 14.9 min). Stone free rate were 80% and 85% in mini-PCNL and standard-PCNL respectively. Intra-operative complications, post-operative need for analgesia, hospital stay were significantly higher in standard-PCNL compared to mini-PCNL (85% vs. 80%). The study followed CONSORT 2010 guidelines for reporting parallel group randomization. Conclusion Mini-PCNL is an effective and safe treatment of kidney stones 2–4 cm, it has the advantage over standard-PCNL being has less intra-operative events, less post-operative analgesia, shorter hospital stay, while operative time and stone free rate are comparable when considering multiplicity, hardness, and site of stones.

Objective : To present the first Egyptian clinical practice guideline for kidney transplantation (KT). Methods : A panel of multidisciplinary subspecialties related to KT prepared this document. The sources of information included updates of six international guidelines, and review of several relevant international and Egyptian publications. All statements were graded according to the strength of clinical practice recommendation and the level of evidence. All recommendations were discussed by the panel members who represented most of the licensed Egyptian centres practicing KT. Results : Recommendations were given on preparation, surgical techniques and surgical complications of both donors and recipients. A special emphasis was made on the recipient’s journey with immunosuppression. It starts with setting the scene by covering the donor and recipient evaluations, medicolegal requirements, recipient’s protective vaccines, and risk assessment. It spans desensitisation and induction strategies to surgical approach and potential complications, options of maintenance immunosuppression, updated treatment of acute rejection and chemoprophylactic protocols. It ends with monitoring for potential complications of the recipient’s suppressed immunity and the short- and long-term complications of immunosuppressive drugs. It highlights the importance of individualisation of immunosuppression strategies consistent with pre-KT risk assessment. It emphasises the all-important role of anti-human leucocyte antigen antibodies, particularly the donor-specific antibodies (DSAs), in acute and chronic rejection, and eventual graft and patient survival. It addresses the place of DSAs across the recipient’s journey with his/her gift of life. Conclusion : This guideline introduces the first proposed standard of good clinical practice in the field of KT in Egypt. Abbreviations : Ab: antibody; ABMR: Ab-mediated rejection; ABO: ABO blood groups; BKV: BK polyomavirus; BMI: body mass index; BTS: British Transplantation Society; CAN: chronic allograft nephropathy; CDC: complement-dependent cytotoxicity; CKD: chronic kidney disease; CMV: cytomegalovirus; CNI: calcineurin inhibitor; CPRA: Calculated Panel Reactive Antibodies; (dn)DSA: ( de novo ) donor-specific antibodies; ECG: electrocardiogram; ESWL: extracorporeal shockwave lithotripsy; FCM: flow cytometry; GBM: glomerular basement membrane; GN: glomerulonephritis; HIV: human immunodeficiency virus; HLA: human leucocyte antigen; HPV: human papilloma virus; IL2-RA: interleukin-2 receptor antagonist; IVIg: intravenous immunoglobulin; KT(C)(R): kidney transplantation/transplant (candidate) (recipient); (L)(O)LDN: (laparoscopic) (open) live-donor nephrectomy; MBD: metabolic bone disease; MCS: Mean channel shift (in FCM-XM); MFI: mean fluorescence intensity; MMF: mycophenolate mofetil; mTOR(i): mammalian target of rapamycin (inhibitor); NG: ‘n...

Background Adenoidal hypertrophy is a common condition in children and can cause symptoms such as mouth breathing, nasal discharge, snoring, sleep apnea, and hyponasal speech. The curettage adenoidectomy has some disadvantages, especially the intranasal extension of the adenoid tissue that makes this technique inadequate. This study is conducted to evaluate and compare between assisted suction coagulation adenoidectomy and traditional curettage techniques. Results One hundred twenty-two patients with symptomatic adenoid hypertrophy such as nasal obstruction, snoring, and mouth breathing were included in our study. Patients underwent adenoidectomy either traditional curettage adenoidectomy (60 patients as group A) or endoscopic assisted suction coagulation adenoidectomy (62 patients as group B). Patients were scheduled for follow-up visits with respect to operative time, operative and postoperative complications. The mean age of groups A and B were 6.57+2.8 and 7+2.8 ranging from 3 to12 years. There was a statistically significant difference between groups as regard intraoperative blood loss, trauma, postoperative complications as neck stiffness and bad odor plus postoperative endoscopic and radiological grading after the operation. Conclusions Suction coagulation diathermy adenoidectomy is alternative to cold adenoidectomy with significantly fewer intraoperative complications such as blood loss and trauma of prevertebral muscle plus post-operative complications such as primary or secondary bleeding and rhinolalia aperta.