Testicular Torsion in a 14-Year-Old with Sertoli Cell Granular Cell Change and Sertoli Nodules.

Sertoli eosinophilic granular change and Sertoli cell nodules are incidental findings. This details focal Sertoli eosinophilic granular and Sertoli cell only changes coincident with Sertoli cell nodules in a pubertal testis with acute torsion and bell clapper deformity. A 14-year-old with bell clapper deformity underwent orchiectomy for torsion.

ALK-positive anaplastic large cell lymphoma initially diagnosed as neurosarcoidosis in a 12-year-old girl.

We present a rare case of optic neuropathy due to anaplastic lymphoma kinase-positive (ALK+) anaplastic large cell lymphoma (ALCL) with optic nerve infiltration in a 12-year-old girl who presented with acute unilateral vision loss, diplopia, and headache after two prior hospitalizations at an outside facility for disk edema. She had a presumptive diagnosis of neurosarcoidosis and empiric treatment had been initiated with high-dose corticosteroids. Ongoing worsening of vision prompted presentation at our facility.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Autoimmune Myelofibrosis in a 12-Year-old Male With Monosomy 7, Systemic Lupus Erythematous and Lupus Nephritis: A Case Report and Review of the Literature.

Complete or partial loss of chromosome 7 is a common and well-known cytogenetic abnormality associated with preleukemic myelodysplasia and myeloid leukemia but not with autoimmune myelofibrosis. Detection of this molecular change represents poor prognosis. When malignant transformation occurs, the condition tends to be chemotherapy-resistant requiring haematopoietic stem cell transplantation (HSCT) to obtain a cure.

Efficacy of tacrolimus in the treatment of children with focal segmental glomerulosclerosis.

Background: Focal segmental glomerulosclerosis (FSGS) is the most common glomerular condition leading to end-stage renal disease (ESRD) and the third most common cause of ESRD in pediatric patients.

Methods: This is a retrospective study consisting of 22 pediatric patients with FSGS and heavy proteinuria. After demonstrating steroids resistance, the patients were treated with tacrolimus, targeting a trough level 5-8 ng/mL.

Double aortic arch and aortopulmonary window: an uncommon presentation in a newborn.

We describe a rare association of aortopulmonary window and double aortic arch in a 1.7-kg newborn who presented with severe respiratory distress. A staged surgical approach was used because of the size of the patient and significant comorbidity.

17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.

Objective: To present the clinical, biochemical, and genetic features of a male pseudohermaphrodite whose condition was caused by 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) deficiency.

Design: Case report.

Setting: Gynecology practice in a university teaching hospital.

Pertussis is eradication achievable?

We are now on the threshold of a major step in reducing the incidence of pertussis and its associated mortality and morbidity in young children. Assuring that vaccines are received in a timely fashion by all children and correcting the "missed opportunities" for providing this highly effective intervention are most critical. A plan for booster immunizations must be developed for older children and adults to offer further protection of young infants through the cocoon effect that this would create for them.