78 research outputs found
Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
No full textWe present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans
Epidermal cyst in the patent processus vaginalis: An unusual inguinal mass in a girl
No full textEpidermal cyst is a benign tumor that grows slowly and develops from entrapment of epidermis into the dermis. Inguinal canal is an extremely unusual location for an epidermal cyst in children. Here in, a 6-year-old girl presenting with inguinal mass which was diagnosed to be epidermal cyst in the patent processus vaginalis sac is reported. To the best of our knowledge, it is the first case of epidermal cyst in the patent processus vaginalis in a child
Optimal channel reuse in cellular radio systems with multiple correlated log-normal interferers
No full textCongenital Microvillus Inclusion Disease in the Differential Diagnosis of Intractable Metabolic Acidosis
No full textWoSScopu
Effects of Correlated Interferers in Multi-User Radio Systems
No full textElectrical Engineering, Mathematics and Computer Scienc
Covered exstrophy with ectopic intestinal tissue and bifid phallus: one-stage repair of a complex abnormality
No full textVariant presentations of the exstrophy-epispadias complex are rare congenital malformations, such as covered exstrophy with bifid phallus. We describe a male neonate with covered exstrophy with an intestinal remnant and epispadiac bifid phallus. We report this case to emphasize the simultaneous successful repair of bifid phallus and exstrophy in this rare complex abnormality. (C) 2011 Elsevier Inc. All rights reserved
The histopathological effects of tamoxifen in the treatment of pubertal gynecomastia
No full textPubertal gynecomastia is the glandular proliferation of male breast tissue. It is regarded as a physiological phenomenon, arising due to a presumed transient imbalance in the ratio of free androgen to free estrogen. Treatment with tamoxifen, a selective estrogen receptor blocker, has been shown to effectively reduce the disc size and is generally considered for treatment when the disc diameter is >3-4 cm. For severe or persistent cases, surgery is considered the mainstay of treatment. We present three cases who reported dissatisfaction with the results of tamoxifen treatment and were therefore submitted to adenectomy by Webster's technique preceded by liposuction. Pathology results showed adipose tissue alone, with no evidence of intraductal epithelial proliferation. The results showing a lack of residual glandular breast tissue after treatment using tamoxifen proves that it is effective in histopathologically eliminating pubertal gynecomastia
Giant Cervical Polyp with Mesonephric Duct Remnants: Unusual Cause of Vaginal Bleeding in an Adolescent Girl
No full textBackground: Cervical polyps (CP) are quite common in adults, they are extremely rare in children and adolescents. CP containing mesonephric duct remnants (MDR) are few millimeters in size and seldom grossly visible. Case: A 14-year-old female admitted with massive vaginal bleeding with an intact wide hymeneal opening. Pelvic MRI revealed 47 mm Chi 25 mm Chi 35 mm polypoid mass originating from the endometrial cavity. During vaginoscopy, a polypoid mass was detected at 9 o'clock position of right lip of ectocervix and was totally excised. Light microscopy showed CP including small round or branched glands containing inspissated eosinophilic secretions and patchy chronic inflammatory infiltrate. The patient was diagnosed as gaint CP containing MDR. Conclusion: Giant CP is an uncommon variant of classical polyps and exhibit distinct clinical and pathologic features. However, MDR are benign lesions of cervix, detailed histopathological evaluation should be performed to all CP to differentiate malignant lesions
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