Crossed testicular ectopia: What should be specified?

Crossed testicular ectopia, also named transverse testicular ectopia, is a rare but well-known congenital anomaly in which both gonads migrate toward the same hemiscrotum. It is usually associated with other abnormalities such as persistent Mu¨ llerian duct syndrome, inguinal hernia, hypospadias, pseudohermaphrodism, and scrotal anomalies. We report two cases of crossed testicular ectopia; a persistent Mullerian duct syndrome was associated in one case. We also performed a literature search for other reports of crossed testicular ectopia.Keywords: crossed testicular ectopia, ectopic testis, persistent Mullerian duct syndrome, testis, transverse testicular ectopi

Management of Perinatal Testicular Torsion: A Single Centre Experience

Perinatal testicular torsion (PTT) is a rare entity. The management of PTT is controversial, due to the low viability of the testis and the possibility of bilateral torsion. This is a review of our experience with six cases of PTT, highlighting diagnostic and therapeutic difficulties of this condition

The Impact of Obesity on Laparo-Endoscopic Single-Site (LESS) Appendectomy in Children

Our study aimed to clarify the relationship between obesity and the risk of postoperative morbidity following LESS appendectomy. We performed a retrospective review of all patients who underwent LESS appendectomy from January 2013 to December 2016.LESS appendectomy was performed in 109 patients during the study period. Among these patients, 17 (15.6%) were obese.There were no significant differences in operative time, postoperative length of stay, surgical site infections, emergency department visits, or readmissions among nonobese and obese groups. In conclusion,obesity did not have any impact on the intraoperative course or short-term postoperative complications after LESS appendectomy

A Comparative Analysis between Right and Left Congenital Diaphragmatic Hernias

Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly of the diaphragm with an incidence of 1:2000-5000 of live births. This study retrospectively evaluated patients who had been operated on for CDH at our department of Pediatric Surgery between January 2013 and December 2016. The Demographic Data and outcomes of right CDH cases (Group 1) were compared with left CDH cases (Group 2)

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T&gt;G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C&gt;A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.</p

Primary Neonatal Diaphragmatic Abscess

Neonatal diaphragmatic abscesses are extremely rare and they usually develop by direct extension from a liver abscess. The first case of primary diaphragmatic abscess in a neonate is reported and the difficulties of diagnosing this rare entity are discussed

Synthesis of coumarin derivative using polymer supported reagents

Recently, there has been a surge in use of polymer-supported reagents and catalysts become common tools for organic synthesis in what is known as polymer-assisted synthesis since they can simplify product isolation and purification. In this context, coumarin derivative 3 was prepared in good yield and high purity, starting from 3-methoxy salicylaldehyde, using reagents supported on a macroporous ion exchange resin. For this purpose, iminocoumarin and unsaturated nitrile were used as starting materials. The synthesized compounds were characterized by IR, NMR and mass spectrometry

Pilomatrixoma of earlobe

Pilomatrixomas are uncommon in children and are frequently misdiagnosed preoperatively. We report a two-year-old female patient with an unusual localization in the earlobe. The lesion was treated by simple enucleation and in two years of follow-up there has been no evidence of recurrence. The case is being reported in view of its rarity and unusual location

Pilomatrixoma of earlobe

Pilomatrixomas are uncommon in children and are frequently misdiagnosed preoperatively. We report a two-year-old female patient with an unusual localization in the earlobe. The lesion was treated by simple enucleation and in two years of follow-up there has been no evidence of recurrence. The case is being reported in view of its rarity and unusual location

Single-port laparoscopic surgery in children: A new alternative in developing countries

Background: Single-incision laparoscopic surgery (SILS) is a technique in laparoscopic surgery, which is based on the idea that all the laparoscopic trocars are inserted through a single umbilical incision. This paper documents a single-centre experience, which performed the single-port surgery in children using an improvised trans-umbilical glove-port with conventional rigid instruments. Materials and Methods: We prospectively studied the outcomes of SILS procedures between January 2013 and June 2014. Materials required making our homemade trans-umbilical port consisted on: A flexible ring, a rigid larger ring, one powder-free surgical glove, a wire-to-skin and standard standards laparoscopic trocars. Results: A total of 90 consecutive procedures had been done in our institution: 15 girls and 75 boys (mean age: 7.5 years). We used SILS on 59 appendectomies with an average operative time of 48 minutes. We needed conversion to conventional surgery in three cases (two with perforated appendicitis and one for difficulty to mobilize the appendix). SIL cholecystectomy was performed for four patients with symptomatic cholelithiasis; mean operative time was 60 min. All patients were discharged on postoperative day 2. Eighteen boys with non-palpable testis were explored and treated. Other procedures included: Varicocelectomy (n = 2), intra-abdominal lymph node biopsies (n = 2), ovarian cystectomy (n = 1), ovarian transposition (n = 1), aspiration of renal hydatid cyst (n = 1), explorative laparoscopy in research to Meckel′s diverticulum (n = 1) and intestinal intussusceptions (n = 1). No post-operative complications were seen in all cases. Conclusions: SILS in the paediatric population using conventional rigid instruments is feasible, safe and effective. It may be an alternative to the costly commercially available single-port systems especially in a developing country like Tunisia