50 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
Congenital Microvillus Inclusion Disease in the Differential Diagnosis of Intractable Metabolic Acidosis
No full textWoSScopu
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
Clitoral epidermoid cyst secondary to blunt trauma in a 9-year-old child
No full textEpidermoid cysts are slowly growing tumors arising from invagination of the epidermis into the dermis traumatically or spontaneously. This implantation in the clitoris is most commonly induced by female genital mutilation. The reported cases with spontaneous onset of this clitoral lesion are scarce. Trauma other than female circumcision predisposing to the onset of the cyst has not been mentioned before. A nine-year-old girl was presented for swelling in the pubic region with the onset following an accidental trauma; the diagnosis was determined to be epidermoid cyst of the clitoris after a brief preoperative evaluation and an accurate surgical management
Origin, petrogenesis and geodynamic implications of the early Eocene Altinpinar adakitic andesites in the eastern Sakarya Zone, northeastern Turkey
No full textEarly Cenozoic magmatism in the eastern Sakarya Zone (NE Turkey) provides an important constraint on the regional tectono-magmatic evolution of the region. Early Eocene syn-collisional adakitic rocks are observed as small stocks with outcropping areas commonly less than 10 km(2). This study presents petrography, whole-rock geochemistry and Sr-Nd-Pb isotope data, as well as in-situ Ar-40/Ar-39 age constraints on one of these adakitic andesites in the Altinpinar area of Gumushane, and discusses source region, petrological processes and geodynamic setting prevailed during their genesis. Andesites commonly show microlitic porphyric and vitrophyric porphyric textures, and include significant amounts of mafic microgranular enclaves (MMEs). Plagioclase, hornblende, Fe-Ti oxides and minor pyroxene are the main mineral phases. In-situ Ar-40-Ar-39 amphibole dating constrains the cooling age of andesites into a time span from 52.8 +/- 1.3-48.8 +/- 1.9 Ma. Andesites are medium to high-K calc-alkaline and display most of the signatures typical of those of the adakites. They are characterized by moderate MgO (1.7-4.1 wt%), low Y (9-14 ppm), Yb (0.9-1.5 ppm), and HREE and high Sr (325-964 ppm) contents, and high Sr/Y (36-76) ratios. Sr-87/Sr-86((t)) (0.704948-0.705100) and Nd-143/Nd-144((t)) (0.512588-0.512628) ratios are in the isotopic range of the adakites. All these geochemical and isotopic data suggest that the parental magma of adakitic andesites has been produced by partial melting of oceanic basalts under amphibole-eclogite facies conditions during the breakoff of the northern Neotethyan oceanic slab.Gumushane University Sci-entific Research Projects Coordination Department (GuBAP) [18, F5114.02.02]This study was financially supported by Gumushane University Sci-entific Research Projects Coordination Department (GuBAP) under the project number 18.F5114.02.02. The author sincerely thanks Enver Akaryal, Emre Aydncakr and Cem Yucel for their support during the field and laboratory studies. Many thanks also go to Alison Halton (The Open University, UK) for performing Ar-Ar dating and Frank C. Ramos (New Mexico State University, USA) for the isotope analyses. I would also like to thank Abdurrahman Dokuz for discussions on adakites and regional geology. The author would like to thank reviewers for their contribution and suggestions, which improved the quality of the manuscript. I am also grateful to Handling Editor Dewashish Upadhyay and Editor-in-Chief Astrid Holzheid for their helpful feedback and timely processing of the paper.WOS:0006946675000012-s2.0-8511042787
Are Congenital Urinary Tract Abnormalities Linked to Maternal Methylenetetrahydrofolate Reductase Polymorphisms in Fetuses of Intentionally Terminated Pregnancies with Oligo- or Anhydramnios ?
No full textObjective: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. Materials and Methods: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases. We evaluated cases for presence of DNA methylation pathway-related gene polymorphisms. Results: We demonstrated that renal abnormalities and disorders exist in 75% of the cases. Pulmonary system anomalies and single umbilical artery were the most frequently observed associated abnormalities. Polymorphisms with known reduced MTHFR activity were found in 81.8% (9/11) of the cases.Association between urinary system abnormalities and polymorphisms with known reduced MTHFR activity was observed in 88.8% (8/9) of the cases. Conclusion: Physicians should keep in mind that polymorphisms with known reduced MTHFR activity may be associated with urinary tract abnormalities and OAH
