Cystic Crypt Changes in Midgestational Human Vermiform Appendix: An Unrecognized Transient Histologic Feature.

Introduction: Lewis and Huff briefly described the presence of "microcystic cryptitis" in some of fetal vermiform appendices (VA) at autopsy. We further characterized these crypt changes (CC), their timing of occurrence, and tested their association with infection/inflammatory conditions.

Methods: Hematoxylin and eosin-stained slides of 345 VA were evaluated for the presence or absence of CC and their different morphologies.

Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.

Disorganization (Ds) is a mouse mutant in which heterozygotes manifest defects in various organ systems including cranioschisis, hamartomas, limb abnormalities, body wall defects, eye defects, and craniopharyngeal defects. We report four patients with developmental anomalies that are seen in amniotic band sequence (ABS) with additional anomalies that could not be explained by amniotic bands alone. The anomalies seen in our patients included facial malformation and clefting, brain anomalies (encephalocele, agenesis of the corpus callosum, holoprosencephaly), eye anomalies (anophthalmia, microphthalmia, and microcornea), and extremity and digit anomalies (talipes equinovarus, absent/hypoplastic phalanges, amputation of an extremity, syndactyly, polydactyly, and anomalous attachment of an extremity).

Cryptorchid testis histopathology in myelomeningocele patients.

Purpose: Cryptorchidism occurs in 25% of boys with myelomeningocele (MMC) compared to 3% of the general population. Testicular biopsy histopathology correlates with future sperm counts. We studied testicular histology in boys with cryptorchidism and MMC to investigate if the MMC influences histological findings.

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.

The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand.

Testicular microlithiasis and antisperm antibodies following testicular biopsy in boys with cryptorchidism.

Purpose: Testicular biopsy (TBx) performed during orchiopexy in boys with cryptorchidism can help to predict future semen analyses and possibly identify patients at risk for testicular cancer. It has been theorized that TBx can be detrimental to the long-term health of the testis. We examined testicular microlithiasis (TM) and antisperm antibody (ASA) production in cryptorchid TBx.

Tracheal anomalies in Pfeiffer syndrome.

Objective: To determine the types and frequency of airway anomalies in patients with Pfeiffer syndrome.

Design: Retrospective case series.

Setting: Academic tertiary care pediatric hospital.

Prepubertal testis tumors: actual prevalence rate of histological types.

Purpose: Tumor registries, urological textbooks and literature surveys all assert that yolk sac tumors are the most common primary testicular tumors in boys 12 years and younger. In contrast, several individual institutions have reported that benign tumors are more common than malignant tumors. To clarify these discordant findings, we surveyed the primary pathology records from 4 major pediatric centers.

Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?

Background: Severe anomalies of the forebrain together with radial limb anomalies have been reported in Steinfeld syndrome, XK aprosencephaly, and partial monosomy 13q. Steinfeld syndrome is an extremely variable autosomal dominant condition that, in severe cases, is characterized by holoprosencephaly, radial limb defects, and renal and/or cardiac defects. In mild cases there may be only thumb hypoplasia, ocular coloboma, or oral clefts.

Cryptorchidism: diagnosis, treatment, and long-term prognosis.

Cryptorchidism is a common anomaly treated by every pediatric urologist. The etiology is multifactorial and includes hormonal and molecular factors. Diagnostic abilities may be enhanced by radiologic advances.

Juvenile granulosa cell tumor of the testis:: contemporary clinical management and pathological diagnosis.

Purpose: Juvenile granulosa cell tumor (JGCT) of the testis is a rarely diagnosed subset of testicular stromal tumors. Although this variant of testicular stromal tumor is predominantly a benign entity in prepubertal patients, limited experience precludes a complete understanding of its clinical presentation and pathological diagnosis.

Materials And Methods: We reviewed all cases of testicular tumors at Children's Hospital of Philadelphia between 1976 and 2002 in males younger than 18 years.

Autosomal dominant inheritance of infantile myofibromatosis.

We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner. These three pedigrees prompted re-assessment of pedigrees available within the genetic, oncologic, surgical, and pathologic literature, which suggest autosomal recessive (AR) inheritance.

Experience with testis sparing surgery for testicular teratoma.

Purpose: Testicular teratoma is a rare neoplasm affecting the pediatric population and has classically been reported to be the second most common testis tumor in children behind yolk sac tumors. Testicular teratomas are benign and partial orchiectomy may be considered. We describe our single institution experience with testicular teratoma and definitive treatment with testis preserving surgery.

Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.

We discuss a patient with Pfeiffer syndrome who had a tracheal sleeve and an FGFR2 mutation. In the light of our findings, and previous reports of patients with craniosynostosis that also reported similar mutations, we suggest that genomic screening for FGFR2 may be useful in cases with negative FGFR2 mutation testing.

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

The constellation of features in Crane-Heise syndrome (CHS) includes 1) poorly mineralized calvarium, 2) characteristic facial anomalies, and 3) extracranial skeletal anomalies that involve both vertebral anomalies and absent clavicles. Since the original report of Crane and Heise [1981: Pediatrics 68:235-237] describing three affected siblings, there have been few isolated cases published. We present two siblings from a second pedigree with features strikingly similar to those presented in the original publication, and distinct clinical differences, including distal phalangeal hypoplasia and mild cardiac and GI abnormalities that may represent familial variation.

Epithelial ovarian tumors in children: a retrospective analysis.

Background/purpose: Epithelial tumors of the ovary account for about 15% of pediatric ovarian masses. The authors reviewed a 14-year experience with ovarian masses to understand the spectrum of pathology, presentation, and outcome of children with epithelial lesions.

Methods: All ovarian masses resected or biopsied at the authors' institution from 1988 to the present were reviewed retrospectively.

Testis histopathology in boys with cryptorchidism correlates with future fertility potential.

Purpose: We studied the ability of testis biopsy to predict eventual fertility potential.

Materials And Methods: A total of 25 patients with unilateral undescended testis and 11 with bilateral undescended testes who previously underwent orchiopexy at a median age of 9 years were followed until after age 18 years. Semen analysis, testicular volume, follicle-stimulating hormone, luteinizing hormone, testosterone and inhibin B were compared to previously obtained biopsies of each testis.

The ascending testis and the testis undescended since birth share the same histopathology.

Purpose: The etiology of the ascending testis is controversial. We propose that ascending testis, defined as a testis previously thought to be descended and later noted to be out of the scrotum, is due to mild hypogonadotropic hypogonadism affecting both testes. The diagnosis of these low types of true undescended testes is difficult to make clinically in children since they are frequently confused with retractile testes.

A GIS/simulation framework for assessing change in water yield over large spatial scales.

Recent legislation to initiate vegetation management in the Central Sierra hydrologic region of California includes a focus on corresponding changes in water yield. This served as the impetus for developing a combined geographic information system (GIS) and simulation assessment framework. Using the existing vegetation density condition, together with proposed rules for thinning to reduce fire risk, a set of simulation model inputs were generated for examining the impact of the thinning scenario on water yield.